Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.

To investigate the molecular basis of the phenotypic heterogeneity in congenital erythropoietic porphyria, the mutations in the uroporphyrinogen III synthase gene from unrelated patients were determined. Six missense (L4F, Y19C, V82F, V99A, A104V, and G225S), a nonsense (Q249X), a frameshift (633ins...

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Опубликовано в::	J Clin Invest
Главные авторы:	Xu, W, Warner, C A, Desnick, R J
Формат:	Artigo
Язык:	Inglês
Опубликовано:	American Society for Clinical Investigation 1995
Предметы:	Research Article
Online-ссылка:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295583/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7860775/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117742
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