Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference20 articles.
1. Targeted mutation in the COL5A2 gene reveals a regulatory role for type V collagen during matrix assembly;Andrikopoulos;Nat Genet,1995
2. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene;Ballo;Am J Med Genet,1998
3. Ehlers-Danlos syndromes: revised nosology, Villefranche 1997;Beighton;Am J Med Genet,1998
4. Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter;Birk;J Cell Sci,1990
5. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome;Burch;Nat Genet,1997
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