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

類似資料

• 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.
  著者:: Kontusaari, S, 等
  出版事項: (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.
  著者:: Kontusaari, S, 等
  出版事項: (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.
  著者:: Ala-Kokko, L, 等
  出版事項: (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.
  著者:: Tromp, G, 等
  出版事項: (1993)
• G to A polymorphism in exon 31 of the COL3A1 gene.
  著者:: Zafarullah, K, 等
  出版事項: (1990)