Oligogenic inheritance of a human heart disease involving a genetic modifier

Complex genetic mechanisms are thought to underlie many human diseases, yet experimental proof of this model has been elusive. Here, we show that a human cardiac anomaly can be caused by a combination of rare, inherited heterozygous mutations. Whole-exome sequencing of a nuclear family revealed that...

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Publicado no:Science
Main Authors: Gifford, Casey A., Ranade, Sanjeev S., Samarakoon, Ryan, Salunga, Hazel T., de Soysa, T. Yvanka, Huang, Yu, Zhou, Ping, Elfenbein, Aryé, Wyman, Stacia K., Bui, Yen Kim, Cordes Metzler, Kimberly R., Ursell, Philip, Ivey, Kathryn N., Srivastava, Deepak
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6557373/
https://ncbi.nlm.nih.gov/pubmed/31147515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aat5056
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