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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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| Publicat a: | Eur J Hum Genet |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2016
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| Matèries: | |
| Accés en línia: | 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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