EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous for the p.C282Y variant in the HFE gene,...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Porto, Graça, Brissot, Pierre, Swinkels, Dorine W, Zoller, Heinz, Kamarainen, Outi, Patton, Simon, Alonso, Isabel, Morris, Michael, Keeney, Steve
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Policy
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929861/
https://ncbi.nlm.nih.gov/pubmed/26153218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.128
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