A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ítems similars

• Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
  per: Ahmad, N N, et al.
  Publicat: (1991)
• Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.
  per: Knowlton, R G, et al.
  Publicat: (1989)
• Stickler's syndrome (hereditary progressive arthro-ophthalmopathy)
  per: Popkin, James S., et al.
  Publicat: (1974)
• 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)
  per: Körkkö, J, et al.
  Publicat: (1993)
• PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.
  per: Ahmad, N N, et al.
  Publicat: (1996)