Mutation of the Type X Collagen Gene (COL10A1) Causes Spondylometaphyseal Dysplasia

This publication has 14 references indexed in Scilit:

• Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
  Human Mutation, 1997
• Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia
  Human Mutation, 1997
• 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.
  Journal of Medical Genetics, 1996
• Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
  American Journal of Medical Genetics, 1996
• Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition
  Nature, 1993
• The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C‐terminal non‐collagenous regions
  FEBS Letters, 1992
• The human collagen X gene. Complete primary translated sequence and chromosomal localization
  Biochemical Journal, 1991
• Isolation of human type X collagen and immunolocalization in fetal human cartilage
  European Journal of Biochemistry, 1991
• Metaphyseal chondrodysplasia, Schmid type Clinical and radiographic deliniation with a review of the literature
  Pediatric Radiology, 1988
• Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues.
  The Journal of cell biology, 1985