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.

Kontusaari, S; Tromp, G; Kuivaniemi, H; Ladda, R L; Prockop, D J

Kontusaari, S; Tromp, G; Kuivaniemi, H; Ladda, R L; Prockop, D J.

Affiliation

Kontusaari S; Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.

Am J Hum Genet ; 47(1): 112-20, 1990 Jul.

Article in En | MEDLINE | ID: mdl-2349939

Subject(s)

Aortic Aneurysm/genetics; Ehlers-Danlos Syndrome/genetics; Mutation; Procollagen/genetics; RNA Splicing/genetics; Adult; Alleles; Aortic Aneurysm/complications; DNA/genetics; Ehlers-Danlos Syndrome/complications; Female; Humans; Male; Pedigree; Phenotype; Polymerase Chain Reaction

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aortic Aneurysm / RNA Splicing / Procollagen / Ehlers-Danlos Syndrome / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 1990 Type: Article

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