Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?

Background: The majority of hereditary haemochromatosis (HH) patients are homozygous for the C282Y mutation in the HFE gene. We have demonstrated a homozygote frequency of 1 in 83 for the C282Y mutation in a retrospective analysis of Irish neonates. However, a fully developed phenotype is not observ...

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Detalhes bibliográficos
Main Authors: Ryan, E, Byrnes, V, Coughlan, B, Flanagan, A-M, Barrett, S, O'Keane, J C, Crowe, J
Formato: Artigo
Idioma:Inglês
Publicado em: Copyright 2002 by Gut 2002
Assuntos:
Liver and Biliary Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1773286/
https://ncbi.nlm.nih.gov/pubmed/12077102
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