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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Detalles Bibliográficos

Publicado en:	J Clin Invest
Principais autores:	Xu, W, Warner, C A, Desnick, R J
Formato:	Artigo
Idioma:	Inglês
Publicado:	American Society for Clinical Investigation 1995
Assuntos:	Research Article
Acceso en liña:	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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