Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of HFE variants in individuals undergoing genome-scale sequencing should be...

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Publicado no:Am J Hum Genet
Main Authors: Gallego, Carlos J., Burt, Amber, Sundaresan, Agnes S., Ye, Zi, Shaw, Christopher, Crosslin, David R., Crane, Paul K., Fullerton, S. Malia, Hansen, Kris, Carrell, David, Kuivaniemi, Helena, Derr, Kimberly, de Andrade, Mariza, McCarty, Catherine A., Kitchner, Terrie E., Ragon, Brittany K., Stallings, Sarah C., Papa, Gabriella, Bochenek, Joseph, Smith, Maureen E., Aufox, Sharon A., Pacheco, Jennifer A., Patel, Vaibhav, Friesema, Elisha M., Erwin, Angelika Ludtke, Gottesman, Omri, Gerhard, Glenn S., Ritchie, Marylyn, Motulsky, Arno G., Kullo, Iftikhar J., Larson, Eric B., Tromp, Gerard, Brilliant, Murray H., Bottinger, Erwin, Denny, Joshua C., Roden, Dan M., Williams, Marc S., Jarvik, Gail P.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4596892/
https://ncbi.nlm.nih.gov/pubmed/26365338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.08.008
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