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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,...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929861/ https://www.ncbi.nlm.nih.gov/pubmed/26153218 http://dx.doi.org/10.1038/ejhg.2015.128 |