An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Liknande verk

• 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.
  av: Chiodo, A A, et al.
  Publicerad: (1995)
• A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
  av: Richards, A J, et al.
  Publicerad: (1998)
• 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.
  av: Lloyd, J, et al.
  Publicerad: (1993)
• 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.
  av: Schwarze, U, et al.
  Publicerad: (1997)
• Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
  av: Schwarze, U, et al.
  Publicerad: (2000)