Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

Antzeko izenburuak

• Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
  nork: Nuytinck, Lieve, et al.
  Argitaratua: (2000)
• A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
  nork: Richards, A J, et al.
  Argitaratua: (1998)
• A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome
  nork: Watanabe, Miki, et al.
  Argitaratua: (2016)
• Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
  nork: Lin, Zejia, et al.
  Argitaratua: (2019)
• An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
  nork: Nicholls, A C, et al.
  Argitaratua: (1996)