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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Dades bibliogràfiques
Publicat a:Science
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Article
Accés en línia: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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