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.

Antzeko izenburuak

• An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
  nork: Nicholls, A C, et al.
  Argitaratua: (1996)
• Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.
  nork: Sillence, D O, et al.
  Argitaratua: (1991)
• 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.
  nork: Lloyd, J, et al.
  Argitaratua: (1993)
• Patients with Ehlers-Danlos syndrome type IV lack type III collagen.
  nork: Pope, F M, et al.
  Argitaratua: (1975)
• Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.
  nork: Adès, L. C., et al.
  Argitaratua: (1995)