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

Benzer Materyaller

• A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
  Yazar:: Ahmad, N N, ve diğerleri
  Baskı/Yayın Bilgisi: (1993)
• Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.
  Yazar:: Knowlton, R G, ve diğerleri
  Baskı/Yayın Bilgisi: (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)
  Yazar:: Körkkö, J, ve diğerleri
  Baskı/Yayın Bilgisi: (1993)
• Stickler's syndrome (hereditary progressive arthro-ophthalmopathy)
  Yazar:: Popkin, James S., ve diğerleri
  Baskı/Yayın Bilgisi: (1974)
• Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.
  Yazar:: Vandenberg, P, ve diğerleri
  Baskı/Yayın Bilgisi: (1991)