Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

Benzer Materyaller

• Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
  Yazar:: Willing, M C, ve diğerleri
  Baskı/Yayın Bilgisi: (1992)
• Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
  Yazar:: Willing, M C, ve diğerleri
  Baskı/Yayın Bilgisi: (1995)
• Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.
  Yazar:: Willing, M. C., ve diğerleri
  Baskı/Yayın Bilgisi: (1996)
• Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
  Yazar:: Willing, M C, ve diğerleri
  Baskı/Yayın Bilgisi: (1990)
• Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
  Yazar:: Wallis, G A, ve diğerleri
  Baskı/Yayın Bilgisi: (1993)