Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Podobne zapisy

• Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
  od: Smith, L T, i wsp.
  Wydane: (1992)
• cDNA cloning and expression of bovine procollagen I N-proteinase: A new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components
  od: Colige, Alain, i wsp.
  Wydane: (1997)
• Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV
  od: Schwarze, Ulrike, i wsp.
  Wydane: (2001)
• Molecular Mechanisms of Classical Ehlers-Danlos Syndrome
  od: Mitchell, Anna L., i wsp.
  Wydane: (2009)
• Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII.
  od: Halila, R, i wsp.
  Wydane: (1986)