Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.

Ítems similars

• 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)
• Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
  per: Frederiksen, Anja Lisbeth, et al.
  Publicat: (2016)
• Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
  per: Wallis, G A, et al.
  Publicat: (1993)
• An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue
  per: Tabeta, Koichi, et al.
  Publicat: (2017)
• Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
  per: Wallis, G A, et al.
  Publicat: (1990)