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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Hum Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2015
Pynciau:
Article
Mynediad Ar-lein: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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