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ehlers-danlos syndrome type vi - genetic disease of connective tissues in body
Definition for Ehlers-Danlos Syndrome type VI
Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis.
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Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. There is no known cure. Treatment is supportive.
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some common symptoms
blindness
curvature of spine
leg length discrepancy
vision problems
some related diagnoses
1 - 7 of
94
diagnoses
Factor V Leiden thrombophilia
Crohn Disease
G6PD deficiency
retinitis pigmentosa
cystinosis
Alport's Syndrome
Hyperlipoproteinemia Type III
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do i have 'Ehlers-Danlos Syndrome type VI'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'ehlers-danlos syndrome type vi'
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Biopsy skin
Ehlers-Danlos Syndrome type VI and Biopsy skin
X-ray spine
Ehlers-Danlos Syndrome type VI and X-ray spine
Comprehensive eye exam
Ehlers-Danlos Syndrome type VI and Comprehensive eye exam
X-rays
Ehlers-Danlos Syndrome type VI and X-rays
therapeutic procedures for 'Ehlers-Danlos Syndrome type VI'?
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 Ehlers-Danlos Syndrome type VI:
therapeutic procedure search results for 'ehlers-danlos syndrome type vi'
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Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
Ehlers-Danlos Syndrome type VI and Physical and Occupational Therapy
medications search results for 'ehlers-danlos syndrome type vi'
rankings are computer generated. please consult your health care provider.
web search results for ehlers-danlos syndrome type vi
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- Ehlers-Danlos Syndrome type VI
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a ...
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel ... Ehlers-Danlos syndrome type VI (EDS VI) is a rare autosomal recessively ...
http://www.ncbi.nlm.nih.gov/pubmed/9617436
www.ncbi.nlm.nih.gov
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summary
A patient with Ehlers-Danlos syndrome type VI is a compound ...
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for ... fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI) ...
http://www.ncbi.nlm.nih.gov/pubmed/8163671
www.ncbi.nlm.nih.gov
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Abnormal retinal blood vessels in Ehlers-Danlos syndrome type VI.
BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue ... Ehlers-Danlos Syndrome/complications* Humans. Male. Retinal Detachment/etiology ...
http://www.ncbi.nlm.nih.gov/pubmed/18158597?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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Ehlers-Danlos syndrome - References - Genetics Home Reference
Human Ehlers-Danlos syndrome type VII C and bovine ... enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab. ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/References
ghr.nlm.nih.gov
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Ehlers-Danlos syndrome - Wikipedia, the free encyclopedia
... symptoms of kyphoscoliosis type, formerly called EDS type VI, are general joint looseness. ... Inheritance patterns depend on the type of Ehlers-Danlos syndrome. ...
http://en.wikipedia.org/wiki/Ehlers_Danlos_Syndrome
en.wikipedia.org
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Ehlers-Danlos Syndrome, Kyphoscoliotic Form
-- GeneReviews -- NCBI ...
EHLERS-DANLOS SYNDROME, TYPE VI ... type of Ehlers-Danlos syndrome (EDS VI) ... Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds6
www.ncbi.nlm.nih.gov
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Ehlers-Danlos syndrome - PubMed - Recent literature - Genetics Home ...
Genetic Conditions > Ehlers-Danlos syndrome > PubMed - Recent literature ... in the Genetics Home Reference condition summary on Ehlers-Danlos syndrome. ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/PubMed
ghr.nlm.nih.gov
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PLOD1(LH) - NextBio
Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl ... Ehlers-Danlos syndrome. Erythorbic Acid. Saccule of membranous lab... Grade ...
http://www.nextbio.com/b/home/home.nb?q=LH
www.nextbio.com
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Ehlers-Danlos syndrome - OMIM - Genetic disorder catalog - Genetics ...
OMIM: Ehlers-Danlos Syndrome, Type VI (Kyphoscoliosis Type) OMIM: Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant (Arthrochalasia Type) ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/OMIM
ghr.nlm.nih.gov
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Ehlers-Danlos Syndrome, Hypermobility Type
Ehlers-Danlos syndrome (EDS), hypermobility type is generally ... V, VI and VII) have an identifiable mutation in either COL1A1 or COL1A2. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Ehlers-Danlos Syndrome, Vascular Type -- GeneReviews -- NCBI Bookshelf
Ehlers-Danlos syndrome, vascular type (also known as EDS IV) is characterized by ... Ehlers-Danlos syndrome VI (kyphoscoliotic form) is an autosomal recessive ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds4
www.ncbi.nlm.nih.gov
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Ehlers-Danlos Syndrome, Classic Type -- GeneReviews -- NCBI Bookshelf
The diagnosis of Ehlers-Danlos syndrome (EDS), classic type is established by ... Ehlers-Danlos syndrome, kyphoscoliotic form (previously known as EDS type VI) is ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds
www.ncbi.nlm.nih.gov
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PLOD1 - procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 - Genetics ...
... cause a form of Ehlers-Danlos syndrome called the kyphoscoliosis type. ... 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) ...
http://ghr.nlm.nih.gov/gene=plod1
ghr.nlm.nih.gov
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Ehlers-Danlos Syndrome, Hypermobility Type -- GeneReviews -- NCBI Bookshelf
Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the ... IV (but none with OI types V, VI and VII) have an identifiable mutation in ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds3
www.ncbi.nlm.nih.gov
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Collagen, type III, alpha 1 - Wikipedia, the free encyclopedia
Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ... COL4A3, COL4A4, COL4A5, COL4A6) · type V (COL5A1, COL5A2, COL5A3) · type VI ...
http://en.wikipedia.org/wiki/Type-III_collagen
en.wikipedia.org
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PLOD1 - References - Genetics Home Reference
... the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. ... clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab. ...
http://ghr.nlm.nih.gov/gene=plod1/show/References
ghr.nlm.nih.gov
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summary
Ehlers-Danlos Syndrome, Classic Type
Ehlers-Danlos syndrome (EDS), classic type is a connective tissue ... Ehlers-Danlos syndrome, kyphoscoliotic form (previously known as EDS type VI) is ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Ehlers-Danlos Syndrome (EDS) Causes, Symptoms, Treatment and Types on ...
Get the facts on Ehlers-Danlos syndrome (EDS) symptoms (joint hypermobility, skin laxity), causes (inherited) ... Kyphoscoliosis type (formerly type VI) ...
http://www.medicinenet.com/ehlers-danlos_syndrome/page2.htm
www.medicinenet.com
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summary
Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme ...
... 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. ... in two unrelated compound heterozygous patients with Ehlers-Danlos type VI. ...
http://www.ncbi.nlm.nih.gov/pubmed/10686424
www.ncbi.nlm.nih.gov
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TNXB - References - Genetics Home Reference
... fibrillogenesis by tenascin-X and type VI collagen. Exp Cell Res. ... in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. ...
http://ghr.nlm.nih.gov/gene=tnxb/show/References
ghr.nlm.nih.gov
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summary
Loeys-Dietz Syndrome -- GeneReviews -- NCBI Bookshelf
... type II with cutaneous features similar to vascular Ehlers-Danlos syndrome (EDS) ... VI are now called the classic, hypermobile, vascular, and ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=loeys-dietz
www.ncbi.nlm.nih.gov
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Orphanet: Simple search
Molecular diagnosis of Ehlers Danlos type I, II, IV, VI, VII(AD), VII(AR) ... Molecular diagnosis of Ehlers-Danlos syndrome, vascular type ...
http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simp...
www.orpha.net
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summary
Type-V collagen - Wikipedia, the free encyclopedia
... a form of fibrillar[1] collagen associated with classical Ehlers-Danlos syndrome. ... COL4A3, COL4A4, COL4A5, COL4A6) · type V (COL5A1, COL5A2, COL5A3) · type VI ...
http://en.wikipedia.org/wiki/Type-V_collagen
en.wikipedia.org
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225400
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225400
www.ncbi.nlm.nih.gov
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Post traumatic subconjunctival dislocation of lens in Ehlers-Danlos ...
Post traumatic subconjunctival dislocation of lens in Ehlers-Danlos syndrome. ... microcornea and susceptibility to trauma is a common feature of EDS type VI. ...
http://www.ncbi.nlm.nih.gov/pubmed/12831154?ordinalpos=651&i...
www.ncbi.nlm.nih.gov
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summary
Brittle cornea syndrome and its delineation from the kyphoscoliotic ...
... from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 ... the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VI), both disorders ...
http://www.ncbi.nlm.nih.gov/pubmed/14679583
www.ncbi.nlm.nih.gov
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OMIM Update List for December, 2003
130080 EHLERS-DANLOS SYNDROME, TYPE VIII. 138290 GLUTAMATE-AMMONIA ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI. 300335 ANGIOTENSIN I CONVERTING ENZYME 2; ACE2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2003
www.ncbi.nlm.nih.gov
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Orphanet: Diseases list
EDS VI. EDS VII. EDS VII C. EDS VIII. EDS with periventricular heterotopia. EDS X. EDS XI ... Ehlers-Danlos syndrome. Ehlers-Danlos syndrome, arthrochalasic type ...
http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=EN&TAG=E
www.orpha.net
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OMIM Update List for April, 2003
130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT. 148040 KERATIN 5; KRT5 ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2003
www.ncbi.nlm.nih.gov
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OMIM Update List for April, 2007
130080 EHLERS-DANLOS SYNDROME, TYPE VIII. 133430 ESTROGEN RECEPTOR 1; ESR1 ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI. 245010 HAIM-MUNK SYNDROME; HMS ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2007
www.ncbi.nlm.nih.gov
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OMIM Update List for July, 2002
225400 EHLERS-DANLOS SYNDROME, TYPE VI. 600024 LAMIN B RECEPTOR; LBR ... Clinical Synopsis for 225400 EHLERS-DANLOS SYNDROME, TYPE VI ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2002
www.ncbi.nlm.nih.gov
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OMIM Update List for September, 1997
130000 EHLERS-DANLOS SYNDROME, TYPE I; E-D I; EDS I ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI; E-D VI; EDS VI. 257220 NIEMANN-PICK DISEASE, TYPE C; NPC ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.1997
www.ncbi.nlm.nih.gov
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MIM Gene map
Ehlers-Danlos syndrome, type VI, 225400 (3); Nevo syndrome, 601451(3) REa, A. 4(Plod) ... Sodium channel, voltage-gated, type I, delta polypeptide. 601328. A ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=VI
www.ncbi.nlm.nih.gov
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PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression ...
... in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI] ... Ehlers-Danlos Syndrome/genetics. Ehlers-Danlos Syndrome/physiopathology ...
http://www.ncbi.nlm.nih.gov/pubmed/11157981
www.ncbi.nlm.nih.gov
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summary
Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 (PLOD1)
Human protein-coding gene PLOD1. Represented by 1267 ESTs from 391 cDNA libraries. ... 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) (PLOD), mRNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75093
www.ncbi.nlm.nih.gov
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summary
Overlap for AL021155.1 and AL096840.25
... dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI), the MFN2 gene ... Type. Date. Whodid. Comment. 70540. InitHasAlign. 08/30/2006 12:31:01. jcherry ...
http://www.ncbi.nlm.nih.gov/projects/genome/assembly/overlap...
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for January, 2002
224690 EAR, PATELLA, SHORT STATURE SYNDROME. 225400 EHLERS-DANLOS SYNDROME, TYPE VI ... 606662 WAARDENBURG SYNDROME, TYPE IIC. 606663 LYSYL OXIDASE-LIKE 2; LOXL2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2002
www.ncbi.nlm.nih.gov
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OMIM Update List for November, 1998
225400 EHLERS-DANLOS SYNDROME, TYPE VI. 247400 MOVED TO 210710 ... 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.1998
www.ncbi.nlm.nih.gov
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OMIM Update List for December, 1995
130010 EHLERS-DANLOS SYNDROME, TYPE II; E-D II. 132890 TRANSCRIPTION ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI. 243450 ISOVALERIC ACID, INABILITY TO SMELL ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.1995
www.ncbi.nlm.nih.gov
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OMIM Update List for December, 2008
606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY ... Clinical Synopsis for 225400 EHLERS-DANLOS SYNDROME, TYPE VI ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2008
www.ncbi.nlm.nih.gov
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ADAMTS2 - Wikipedia, the free encyclopedia
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by ... COL4A3, COL4A4, COL4A5, COL4A6) · type V (COL5A1, COL5A2, COL5A3) · type VI ...
http://en.wikipedia.org/wiki/ADAMTS2
en.wikipedia.org
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OMIM Update List for March, 2007
... EHLERS-DANLOS SYNDROME, TYPE VIII ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI ... 229200 EHLERS-DANLOS SYNDROME, TYPE VIB. 248200 STARGARDT DISEASE 1; STGD1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2007
www.ncbi.nlm.nih.gov
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OMIM Update List for April, 1996
225400 EHLERS-DANLOS SYNDROME, TYPE VI. 227330 FACIODIGITOGENITAL SYNDROME, RECESSIVE ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI. 277700 WERNER SYNDROME; WRN ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.1996
www.ncbi.nlm.nih.gov
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OMIM Update List for June, 2004
130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED ... 600970 MYOSIN VI; MYO6. 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2004
www.ncbi.nlm.nih.gov
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OMIM Update List for June, 2005
Clinical Synopsis for 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI. 254780 MYOCLONIC EPILEPSY OF LAFORA ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2005
www.ncbi.nlm.nih.gov
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Bethlem myopathy - Wikipedia, the free encyclopedia
... of the three genes coding for type VI collagen.[1] These include COL6A1, COL6A2, ... COL1: Osteogenesis imperfecta · Ehlers-Danlos syndrome, types 1,2,&7 ...
http://en.wikipedia.org/wiki/Bethlem_myopathy
en.wikipedia.org
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OMIM Update List for December, 1998
120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1. 120420 COLONY-STIMULATING FACTOR 1; CSF1 ... 225360 EHLERS-DANLOS SYNDROME, TYPE IV-D ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.1998
www.ncbi.nlm.nih.gov
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OMIM Update List for February, 1996
225400 EHLERS-DANLOS SYNDROME, TYPE VI. 232600 GLYCOGEN STORAGE DISEASE V ... 225400 EHLERS-DANLOS SYNDROME, TYPE VI. 229600 FRUCTOSE INTOLERANCE, HEREDITARY ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1996
www.ncbi.nlm.nih.gov
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COL5A2 - Wikipedia, the free encyclopedia
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.". J. Med. ... COL4A3, COL4A4, COL4A5, COL4A6) · type V (COL5A1, COL5A2, COL5A3) · type VI ...
http://en.wikipedia.org/wiki/COL5A2
en.wikipedia.org
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MIM Gene map
Ehlers-Danlos syndrome, type VI, 225400 (3); Nevo syndrome, 601451(3) REa, A. 4(Plod) ... C1q deficiency, type B (3) REa, REb (C1qb) Copyright © 1966-2009 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l236250
www.ncbi.nlm.nih.gov
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