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.

Antzeko izenburuak

• Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
  nork: Schwarze, U, et al.
  Argitaratua: (1997)
• An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
  nork: Nicholls, A C, et al.
  Argitaratua: (1996)
• 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.
  nork: Richards, A, et al.
  Argitaratua: (1993)
• Clinical presentations of Ehlers Danlos syndrome type IV.
  nork: Pope, F M, et al.
  Argitaratua: (1988)
• Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
  nork: Chiodo, A A, et al.
  Argitaratua: (1995)