Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference48 articles.
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2. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers- Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK);Beighton;Am J Med Genet,1998
3. Collagen type I and type V are present in the same fibril in the avian corneal stroma;Birk;J Cell Biol,1988
4. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta;Bonadio;J Biol Chem,1985
5. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome;Burch;Nat Genet,1997
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