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.

Lignende værker

• A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
  af: Kontusaari, S, et al.
  Udgivet: (1990)
• 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.
  af: Kontusaari, S, et al.
  Udgivet: (1992)
• 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
  af: Schwarze, Ulrike, et al.
  Udgivet: (2001)
• Ehlers-Danlos syndrome type IV
  af: Germain, Dominique P
  Udgivet: (2007)
• 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.
  af: Vasan, N S, et al.
  Udgivet: (1991)