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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Bibliografische gegevens

Gepubliceerd in:	J Clin Invest
Hoofdauteurs:	Xu, W, Warner, C A, Desnick, R J
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	American Society for Clinical Investigation 1995
Onderwerpen:	Research Article
Online toegang:	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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