Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Antzeko izenburuak

• Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
  nork: Kontusaari, S, et al.
  Argitaratua: (1990)
• A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
  nork: Kontusaari, S, et al.
  Argitaratua: (1990)
• A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
  nork: Vasan, N S, et al.
  Argitaratua: (1991)
• Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV
  nork: Schwarze, Ulrike, et al.
  Argitaratua: (2001)
• Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII.
  nork: Halila, R, et al.
  Argitaratua: (1986)