Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity

The syndrome of hepatic cirrhosis diabetes and skin pigmentation (‘Bronze diabetes’) has been well documented, including its propensity to lead to hepatocellular cancer. However, this picture of advanced disease is much less common nowadays with increased awareness and early diagnosis. However, in a...

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Principais autores:	Dilum Ekanayake, Clinton Roddick, Murtaza Khanbhai, Lawrie W. Powell
Formato:	Artigo
Idioma:	Inglês
Publicado em:	European Medical Journal 2015-01-01
coleção:	European Medical Journal Hepatology
Assuntos:	Haemochromatosis HFE haemochromatosis iron metabolism secondary iron overload
Acesso em linha:	http://emjreviews.com/wp-content/uploads/Homozygosity-For-The-C282Y-Substitution-In-The-HFE-Gene-The-Incomplete-Penetrance-And-Variable-Expressivity.pdf
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