Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference20 articles.
1. Ehlers-Danlos syndromes: revised nosology Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehers-Danlos Support Group (UK);Beighton;Am J Med Genet,1998
2. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta;Bonadio;J Biol Chem,1985
3. 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;Burrows;Am J Hum Genet,1998
4. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II;De Paepe;Am J Hum Genet,1997
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