Frameshift mutation near the 3′ end of the COL1A1 gene of type I collagen predicts an elongated Proα1(I) chain and results in osteogenesis imperfecta type I

Antzeko izenburuak

• 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.
  nork: Willing, M C, et al.
  Argitaratua: (1990)
• Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
  nork: Willing, M. C., et al.
  Argitaratua: (1994)
• Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
  nork: Willing, M C, et al.
  Argitaratua: (1995)
• Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
  nork: Willing, M C, et al.
  Argitaratua: (1992)
• Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2
  nork: Sykes, Bryan, et al.
  Argitaratua: (1990)