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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.

Inheritance of a single base mutation in the type III procollagen gene (COL3A1) was studied in a family with aortic aneurysms and easy bruisability. The mutation was a substitution of A for G+ 1 of intron 20 of the gene and caused aberrant splicing of RNA transcribed from the mutated allele. The phe...

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Hlavní autoři: Kontusaari, S, Tromp, G, Kuivaniemi, H, Ladda, R L, Prockop, D J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1990
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683756/
https://ncbi.nlm.nih.gov/pubmed/2349939
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