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epidermolysis bullosa simplex-koebner - rare inherited blistering skin disorder
Definition for epidermolysis bullosa simplex-Koebner
Epidermolysis Bullosa (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma.
some common symptoms
blister(s) or bump(s) on skin
scarred feet
scarred hands
scarred skin
some related diagnoses
1 - 7 of
20
diagnoses
variegate porphyria
burns
panniculitis
porphyria cutanea tarda
scleroderma
electrical injuries
dermatitis artefacta
more
do i have 'epidermolysis bullosa simplex-Koebner'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'epidermolysis bullosa simplex-koebner'
1 - 5 of
21
diagnostic tests
Biopsy skin
epidermolysis bullosa simplex-Koebner and Biopsy skin
DNA mutation analysis
epidermolysis bullosa simplex-Koebner and DNA mutation analysis
Electron Microscopy
epidermolysis bullosa simplex-Koebner and Electron Microscopy
Immunofluorescence microscopy
epidermolysis bullosa simplex-Koebner and Immunofluorescence microscopy
Molecular Genetic Studies
epidermolysis bullosa simplex-Koebner and Molecular Genetic Studies
Complete Blood Count
epidermolysis bullosa simplex-Koebner and Complete Blood Count
Endoscopy, Upper Gastrointestinal
Endoscopy
epidermolysis bullosa simplex-Koebner and Endoscopy, Upper Gastrointestinal
Serum Albumin
type of protein in human plasma
epidermolysis bullosa simplex-Koebner and Serum Albumin
Upper GI Series
Xray examination of upper digestive tract after drinking barium
epidermolysis bullosa simplex-Koebner and Upper GI Series
Amniocentesis
epidermolysis bullosa simplex-Koebner and Amniocentesis
Chorionic Villus Sampling (CVS)
epidermolysis bullosa simplex-Koebner and Chorionic Villus Sampling (CVS)
Iron indices
epidermolysis bullosa simplex-Koebner and Iron indices
Comprehensive eye exam
epidermolysis bullosa simplex-Koebner and Comprehensive eye exam
Endoscopy
epidermolysis bullosa simplex-Koebner and Endoscopy
Gastroscopy
epidermolysis bullosa simplex-Koebner and Gastroscopy
Punch biopsy
epidermolysis bullosa simplex-Koebner and Punch biopsy
Serum iron
epidermolysis bullosa simplex-Koebner and Serum iron
Serum transferrin saturation
epidermolysis bullosa simplex-Koebner and Serum transferrin saturation
biopsy from edge of blister
epidermolysis bullosa simplex-Koebner and biopsy from edge of blister
fetal skin biopsy
epidermolysis bullosa simplex-Koebner and fetal skin biopsy
serum total iron binding capacity (TIBC)
epidermolysis bullosa simplex-Koebner and serum total iron binding capacity (TIBC)
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therapeutic procedures for 'epidermolysis bullosa simplex-Koebner'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for epidermolysis bullosa simplex-Koebner:
therapeutic procedure search results for 'epidermolysis bullosa simplex-koebner'
1 - 5 of
9
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Excision
epidermolysis bullosa simplex-Koebner and Excision
dental care
epidermolysis bullosa simplex-Koebner and dental care
Skin equivalents
epidermolysis bullosa simplex-Koebner and Skin equivalents
Endotracheal Intubation
Intubation
epidermolysis bullosa simplex-Koebner and Endotracheal Intubation
Esophageal dilatation
epidermolysis bullosa simplex-Koebner and Esophageal dilatation
Gastroscopy
epidermolysis bullosa simplex-Koebner and Gastroscopy
Endoscopy
epidermolysis bullosa simplex-Koebner and Endoscopy
Fetoscopy
epidermolysis bullosa simplex-Koebner and Fetoscopy
surgical intervention
epidermolysis bullosa simplex-Koebner and surgical intervention
for more please login, login is free (click to login)
medications search results for 'epidermolysis bullosa simplex-koebner'
rankings are computer generated. please consult your health care provider.
web search results for epidermolysis bullosa simplex-koebner
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1 - 50
- epidermolysis bullosa simplex-Koebner
Epidermolysis bullosa - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex ... bullosa simplex (Koebner variant of generalized epidermolysis bullosa simplex) ... Meara epidermolysis bullosa simplex) ...
http://en.wikipedia.org/wiki/Epidermolysis_bullosa
en.wikipedia.org
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summary
Epidermolysis bullosa simplex - Genetics Home Reference
... mildest form of epidermolysis bullosa simplex, known as the ... In the Koebner type, blisters appear at birth or in early infancy and are more widespread. ...
http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex
ghr.nlm.nih.gov
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summary
Epidermolysis Bullosa Simplex -- GeneReviews -- NCBI Bookshelf
In 1886, Koebner coined the term epidermolysis bullosa hereditaria. ... EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2. 131960 ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebs
www.ncbi.nlm.nih.gov
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summary
Epidermolysis bullosa simplex - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in ... bullosa simplex (Koebner variant of generalized epidermolysis bullosa simplex) ...
http://en.wikipedia.org/wiki/Epidermolysis_bullosa_simplex
en.wikipedia.org
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summary
Epidermolysis bullosa simplex - Related Gene(s) - Genetics Home Reference
KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) KRT5: keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ...
http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex...
ghr.nlm.nih.gov
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summary
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant ...
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele ... skin-blistering disorder, epidermolysis bullosa simplex, Koebner subtype (EBS-K) ...
http://www.ncbi.nlm.nih.gov/pubmed/7534039
www.ncbi.nlm.nih.gov
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summary
KRT14 - keratin 14 (epidermolysis bullosa simplex, Dowling-Meara ...
... this gene is "keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ... epidermolysis bullosa simplex - caused by mutations in the KRT14 gene ...
http://ghr.nlm.nih.gov/gene=krt14
ghr.nlm.nih.gov
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summary
Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) (Krt14)
Norway rat protein-coding gene Krt14. Represented by 21 ESTs from 9 ... keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) R. norvegicus. 100.0 ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=153972
www.ncbi.nlm.nih.gov
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summary
KRT5 - keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner ...
epidermolysis bullosa simplex - caused by mutations in the KRT5 gene ... including the Weber-Cockayne and Koebner types, are often caused by mutations ...
http://ghr.nlm.nih.gov/gene=krt5
ghr.nlm.nih.gov
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summary
Dystrophic Epidermolysis Bullosa -- GeneReviews -- NCBI Bookshelf
EB simplex. Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin ... In EBS, Koebner type (EBS-K), blisters may be present at birth or ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebd
www.ncbi.nlm.nih.gov
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summary
Mapping of epidermolysis bullosa simplex mutation to chromosome 12.
Epidermolysis bullosa simplex (EBS) is a dominantly inherited ... from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively. ...
http://www.ncbi.nlm.nih.gov/pubmed/1718160
www.ncbi.nlm.nih.gov
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summary
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin ... it was discovered that the more severe types, Dowling-Meara and Koebner, are ...
http://www.ncbi.nlm.nih.gov/pubmed/7688477
www.ncbi.nlm.nih.gov
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summary
Junctional Epidermolysis Bullosa -- GeneReviews -- NCBI Bookshelf
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin ... In EBS, Koebner type (EBS-K), blisters may be present at birth or develop within ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ebj
www.ncbi.nlm.nih.gov
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summary
Dystrophic Epidermolysis Bullosa
In EBS, Koebner type (EBS-K), blisters may be present at ... epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Search Results - Genetics Home Reference
... have been identified in people with epidermolysis bullosa simplex. ... KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) Gene summary ...
http://ghr.nlm.nih.gov/ghr/search?query=Epidermolysis
ghr.nlm.nih.gov
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summary
AceView: Gene:KRT17andKRT16andKRT14, a comprehensive annotation of ...
... the genes for these keratins are associated with epidermolysis bullosa simplex. ... bullosa simplex, autosomal recessive; Epidermolysis bullosa simplex, Koebner, ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=KRT17
www.ncbi.nlm.nih.gov
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summary
Chromosome 17 - Genes on chromosome 17 - Genetics Home Reference
Conditions related to genes on chromosome 17. Chromosomes > ... KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) KRT16: keratin 16 ...
http://ghr.nlm.nih.gov/chromosome=17/show/Genes
ghr.nlm.nih.gov
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summary
131900
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131900
www.ncbi.nlm.nih.gov
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summary
KRT gene family - Related Gene(s) - Genetics Home Reference
KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) KRT16: keratin 16 ... keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner ...
http://ghr.nlm.nih.gov/geneFamily=krt/show/Related+Gene(s)
ghr.nlm.nih.gov
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summary
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for ...
... (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. ... an autosomal dominant simplex (Koebner) form of epidermolysis bullosa (EB) ...
http://www.ncbi.nlm.nih.gov/pubmed/7682883
www.ncbi.nlm.nih.gov
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summary
Search Results - Genetics Home Reference
KRT5: keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner ... KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) Gene summary ...
http://ghr.nlm.nih.gov/ghr/search?query="Skin+Conditions"&show=genes
ghr.nlm.nih.gov
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summary
AceView: Gene:KRT5andKRT6A, a comprehensive annotation of human, mouse ...
... with a complex of diseases termed epidermolysis bullosa simplex. ... Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=KRT5
www.ncbi.nlm.nih.gov
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summary
PubMed-Link Search Results - Genetics Home Reference
KRT14:keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) Gene summary ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/search/term=11535630?area=pubmed-id
ghr.nlm.nih.gov
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summary
MIM Gene map
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) ... Koebner type, 131900 (3); Epidermolysis bullosa simplex, recessive, 601001 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d8967
www.ncbi.nlm.nih.gov
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summary
PubMed-Link Search Results - Genetics Home Reference
KRT14:keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) Gene summary ... KRT5:keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner ...
http://ghr.nlm.nih.gov/search/term=7688477?area=pubmed-id
ghr.nlm.nih.gov
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summary
MIM Gene map
... Meara type, 131760 (3);Epidermolysis bullosa simplex, Koebner type, 131900 (3) ... 179850 (3); Epidermolysis bullosa simplex with migratory circinate ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l146590
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
Epidermolysis bullosa simplex, Koebner, Dowling-Meara, andWeber-Cockayne types, 131900, 131760, 131800 (3); Epidermolysis bullosa ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l601001
www.ncbi.nlm.nih.gov
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summary
131800
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131800
www.ncbi.nlm.nih.gov
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summary
Cellular component organization - Gene Category - Genetics Home Reference
ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1 ... KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) KRT16: keratin 16 ...
http://ghr.nlm.nih.gov/GenesByCategory/GO_0008150,GO_0009987,GO_0016043
ghr.nlm.nih.gov
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summary
Intracellular membrane-bounded organelle - Gene Category - Genetics ...
Gene categories > Cellular component > Organelle > Membrane-bounded organelle > ... KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ...
http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0005575,G...
ghr.nlm.nih.gov
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summary
Transcribed locus, moderately similar to XP_001518151.1 PREDICTED ...
... (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ... similar to keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) O. anatinus ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=401...
www.ncbi.nlm.nih.gov
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summary
Epidermal type I keratin (K14) (KRT14)
... keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner), mRNA (cDNA ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) mRNA, complete cds ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=654380
www.ncbi.nlm.nih.gov
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summary
Mutation analysis of the entire keratin 5 and 14 genes in patients with ...
Epidermolysis bullosa simplex is a group of blistering skin disorders caused by ... the Koebner and the Weber-Cockayne subtypes of epidermolysis bullosa simplex ...
http://www.ncbi.nlm.nih.gov/pubmed/12655565
www.ncbi.nlm.nih.gov
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summary
Identification of a leucine-to-proline mutation in the keratin 5 gene ...
... family with the generalized (Köbner) type of epidermolysis bullosa simplex ... Epidermolysis Bullosa Simplex/genetics* Female. Finland. Humans. Keratins ...
http://www.ncbi.nlm.nih.gov/pubmed/7686424
www.ncbi.nlm.nih.gov
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summary
Keratin 14 - Wikipedia, the free encyclopedia
Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner), also known ... Epidermolysis bullosa simplex: evidence in two families for keratin gene ...
http://en.wikipedia.org/wiki/Keratin_14
en.wikipedia.org
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OMIM Update List for December, 1996
131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION. 133450 EWING ... Clinical Synopsis for 131900 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.1996
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for July, 1996
Clinical Synopsis for 131900 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2 ... Synopsis for 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1996
www.ncbi.nlm.nih.gov
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List of diseases (E) - Wikipedia, the free encyclopedia
Epidermolysa bullosa simplex and limb girdle muscular ... Epidermolysis bullosa simplex, Cockayne-Touraine type. Epidermolysis bullosa simplex, Koebner type ...
http://en.wikipedia.org/wiki/List_of_diseases_(E)
en.wikipedia.org
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Reference SNP(refSNP) Cluster Report: rs11551749
Database of Single Nucleotide ... Search for SNP on NCBI Reference Assembly. Search Entrez ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ...
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs11551749
www.ncbi.nlm.nih.gov
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summary
cDNA Library 1387 [Rattus norvegicus]
UI-R-Y0 ... The driver for the subtraction consisted of a pool of all ... Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner). 3. 344. Rn.1495 ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?LID=1387&PAGE=8
www.ncbi.nlm.nih.gov
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summary
cDNA Library 17432 [Homo sapiens]
Fetal Brain 18 ... 22 ESTs from this library were grouped into 21 ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus anatinus] ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=17432
www.ncbi.nlm.nih.gov
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summary
Keratin 5 - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex: evidence in two families for keratin ... in a family with the generalized Köbner type of epidermolysis bullosa simplex.". Hum. ...
http://en.wikipedia.org/wiki/Keratin_5
en.wikipedia.org
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summary
cDNA Library 2393 [Homo sapiens]
47 ESTs from this library were grouped into 45 UniGene entries ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus anatinus] ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=2393
www.ncbi.nlm.nih.gov
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summary
cDNA Library 4292 [Homo sapiens]
CN0024 ... Reverse transcription of tissue mRNA and cDNA ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus anatinus] ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=4292
www.ncbi.nlm.nih.gov
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summary
cDNA Library 6717 [Homo sapiens]
TN0121 ... Reverse transcription of tissue mRNA and cDNA ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus anatinus] ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=6717
www.ncbi.nlm.nih.gov
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summary
List of skin-related conditions - Wikipedia, the free encyclopedia
Epidermolysis bullosa simplex with mottled pigmentation ... Generalized epidermolysis bullosa simplex (Koebner) Generalized trichoepitheliomas ...
http://en.wikipedia.org/wiki/List_of_skin_diseases
en.wikipedia.org
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summary
cDNA Library 6747 [Homo sapiens]
UT0063 ... Reverse transcription of tissue mRNA and cDNA ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus anatinus] ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=6747
www.ncbi.nlm.nih.gov
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summary
cDNA Library 6875 [Homo sapiens]
CT0488 ... Reverse transcription of tissue mRNA and cDNA ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus anatinus] ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=6875
www.ncbi.nlm.nih.gov
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summary
cDNA Library 7336 [Homo sapiens]
KT0003 ... Reverse transcription of tissue mRNA and cDNA ... 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus anatinus] ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=7336
www.ncbi.nlm.nih.gov
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summary
cDNA Library 1365 [Homo sapiens]
Human fetal ... 2,311 ESTs from this library were grouped into 1,284 UniGene ... (epidermolysis bullosa simplex, Dowling-Meara, Koebner) [Ornithorhynchus ...
http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?LID=1365
www.ncbi.nlm.nih.gov
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summary
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