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.

समान संसाधन

• Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
  द्वारा: Cohn, D H, और अन्य
  प्रकाशित: (1990)
• Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
  द्वारा: Wallis, G A, और अन्य
  प्रकाशित: (1993)
• Lethal osteogenesis imperfecta.
  द्वारा: Knisely, A S, और अन्य
  प्रकाशित: (1989)
• Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
  द्वारा: Willing, M C, और अन्य
  प्रकाशित: (1992)
• 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.
  द्वारा: Schwarze, U, और अन्य
  प्रकाशित: (1999)