Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)
β Scribed by Ulrike Schwarze; Mary Atkinson; Guy G. Hoffman; Daniel S. Greenspan; Peter H. Byers
- Book ID
- 117853307
- Publisher
- American Society of Human Genetics
- Year
- 2000
- Tongue
- English
- Weight
- 756 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302933
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π SIMILAR VOLUMES
Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the E
Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations sugg