Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).
Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper sca...
Main Authors: | Loughlin, J, Irven, C, Hardwick, L, Butcher, S, Walsh, S, Wordsworth, P, Sykes, B |
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Format: | Journal article |
Language: | English |
Published: |
1995
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