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.

Ítems similars

• 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.
  per: Wallis, G A, et al.
  Publicat: (1996)
• A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
  per: Chan, D, et al.
  Publicat: (1998)
• 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
  per: GREGORY, C., et al.
  Publicat: (2000)
• Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management
  per: Al Kaissi, Ali, et al.
  Publicat: (2018)
• SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.
  per: Sweetman, W A, et al.
  Publicat: (1992)