A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

Registos relacionados

• Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII.
  Por: Halila, R, et al.
  Publicado em: (1986)
• Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
  Por: Kontusaari, S, et al.
  Publicado em: (1992)
• Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
  Por: Kontusaari, S, et al.
  Publicado em: (1990)
• Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
  Por: Colige, A, et al.
  Publicado em: (1999)
• An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
  Por: Nicholls, A C, et al.
  Publicado em: (1996)