The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.

Gelijkaardige items

• Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
  door: Richards, A J, et al.
  Gepubliceerd in: (1991)
• Clinical presentations of Ehlers Danlos syndrome type IV.
  door: Pope, F M, et al.
  Gepubliceerd in: (1988)
• Patients with Ehlers-Danlos syndrome type IV lack type III collagen.
  door: Pope, F M, et al.
  Gepubliceerd in: (1975)
• A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
  door: Lloyd, J, et al.
  Gepubliceerd in: (1993)
• Inheritance of Ehlers-Danlos type IV syndrome.
  door: Pope, F M, et al.
  Gepubliceerd in: (1977)