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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.

A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino acid position 1018 to a codon for aspartate. (Amino acid positio...

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Autores principales: Kontusaari, S, Tromp, G, Kuivaniemi, H, Stolle, C, Pope, F M, Prockop, D J
Formato: Artigo
Lenguaje:Inglês
Publicado: 1992
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682722/
https://ncbi.nlm.nih.gov/pubmed/1496983
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