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.

Samankaltaisia teoksia

• 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.
  Tekijä: Richards, A, et al.
  Julkaistu: (1993)
• Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
  Tekijä: Nuytinck, L, et al.
  Julkaistu: (1992)
• Vascular Ehlers-Danlos Syndrome Mutations in Type III Collagen Differently Stall the Triple Helical Folding
  Tekijä: Mizuno, Kazunori, et al.
  Julkaistu: (2013)
• Clinical presentations of Ehlers Danlos syndrome type IV.
  Tekijä: Pope, F M, et al.
  Julkaistu: (1988)
• Patients with Ehlers-Danlos syndrome type IV lack type III collagen.
  Tekijä: Pope, F M, et al.
  Julkaistu: (1975)