SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.

Antzeko izenburuak

• Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
  nork: Wallis, G A, et al.
  Argitaratua: (1996)
• Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.
  nork: Wordsworth, P, et al.
  Argitaratua: (1988)
• Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid
  nork: GREGORY, C., et al.
  Argitaratua: (2000)
• Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.
  nork: Wallis, G. A., et al.
  Argitaratua: (1994)
• Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
  nork: Wallis, G A, et al.
  Argitaratua: (1993)