A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.

Ítems similars

• Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia
  per: Tan, Jacqueline T., et al.
  Publicat: (2008)
• 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.
  per: Wallis, G. A., et al.
  Publicat: (1994)
• Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management
  per: Al Kaissi, Ali, et al.
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• 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)
• Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
  per: Khorasani, Efat, et al.
  Publicat: (2016)