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.

Ítems similars

• Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
  per: Willing, M C, et al.
  Publicat: (1992)
• Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
  per: Willing, M. C., et al.
  Publicat: (1994)
• 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
  Publicat: (1990)
• Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
  per: Willing, M C, et al.
  Publicat: (1995)
• Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
  per: Cohn, D H, et al.
  Publicat: (1990)