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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Detalles Bibliográficos
Autores principales: Porto, Graça, Brissot, Pierre, Swinkels, Dorine W, Zoller, Heinz, Kamarainen, Outi, Patton, Simon, Alonso, Isabel, Morris, Michael, Keeney, Steve
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Policy
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

Internet

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

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