Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Lignende værker

• Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
  af: Ahmad, N N, et al.
  Udgivet: (1991)
• Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.
  af: Knowlton, R G, et al.
  Udgivet: (1989)
• Stickler's syndrome (hereditary progressive arthro-ophthalmopathy)
  af: Popkin, James S., et al.
  Udgivet: (1974)
• A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
  af: Ahmad, N N, et al.
  Udgivet: (1993)
• COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
  af: Richards, A., et al.
  Udgivet: (2000)