A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference29 articles.
1. Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly;Andrikopoulos;Nat Genet,1995
2. International nosology of heritable disorders of connective tissue, Berlin, 1986;Beighton;Am J Med Genet,1988
3. Articular mobility in an African population;Beighton;Ann Rheum Dis,1973
4. Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter;Birk;J Cell Sci,1990
5. The gene encoding collagen α1(V) (COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II;Burrows;J Invest Dermatol,1996
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