A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.

Lignende værker

• 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.
  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)
• Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.
  af: Ala-Kokko, L, et al.
  Udgivet: (1989)
• Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.
  af: Tromp, G, et al.
  Udgivet: (1993)
• G to A polymorphism in exon 31 of the COL3A1 gene.
  af: Zafarullah, K, et al.
  Udgivet: (1990)