Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.

Article

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.

Clinical and experimental dermatology - 1 Jul 1997

Burrows N P, Nicholls A C, Yates J R, Richards A J, Pope F M

Abstract excerpt

To investigate the role of COL5A1 as a candidate gene for Ehlers-Danlos syndrome (EDS), we have carried out linkage studies in two large British families with EDS type I/II and type II, respectively. Fourteen living, affected individuals were identified by family history, clinical examination and...

Topics

Collagen
Ehlers-Danlos Syndrome
Female
Genetic Linkage
Humans
Male
Pedigree
Phenotype

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