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...

Fuld beskrivelse

Bibliografiske detaljer

Udgivet i:	J Clin Invest
Principais autores:	Xu, W, Warner, C A, Desnick, R J
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Society for Clinical Investigation 1995
Fag:	Research Article
Online adgang:	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
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!