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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.

Fibroblasts from a proband with Ehlers-Danlos syndrome type VII synthesized approximately equal amounts of normal and shortened pro alpha 2(I) chains of type I procollagen. Nuclease S1 probe protection experiments with mRNA demonstrated that the pro alpha 2(I) chains were shortened because of a dele...

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Autores principales: Vasan, N S, Kuivaniemi, H, Vogel, B E, Minor, R R, Wootton, J A, Tromp, G, Weksberg, R, Prockop, D J
Formato: Artigo
Lenguaje:Inglês
Publicado: 1991
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683036/
https://ncbi.nlm.nih.gov/pubmed/1990839
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