Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Lignende værker

• 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)
• Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.
  af: Knowlton, R G, et al.
  Udgivet: (1989)
• 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)
  af: Körkkö, J, et al.
  Udgivet: (1993)
• Stickler's syndrome (hereditary progressive arthro-ophthalmopathy)
  af: Popkin, James S., et al.
  Udgivet: (1974)
• Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.
  af: Ala-Kokko, L, et al.
  Udgivet: (1989)