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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Autori principali:	Dilum Ekanayake, Clinton Roddick, Murtaza Khanbhai, Lawrie W. Powell
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	European Medical Journal 2015-01-01
Serie:	European Medical Journal Hepatology
Soggetti:	Haemochromatosis HFE haemochromatosis iron metabolism secondary iron overload
Accesso online:	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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