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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Vydáno v:Am J Hum Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
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On-line přístup: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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