Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

Familial porphyria cutanea tarda (f-PCT) results from the half-normal activity of uroporphyrinogen decarboxylase (URO-D). Heterozygotes for this autosomal dominant trait are predisposed to photosensitive cutaneous lesions by various ecogenic factors, including iron overload and alcohol abuse. The 3....

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Detalhes bibliográficos
Main Authors: Mendez, M, Sorkin, L, Rossetti, M V, Astrin, K H, del C Batlle, A M, Parera, V E, Aizencang, G, Desnick, R J
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377546/
https://ncbi.nlm.nih.gov/pubmed/9792863
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