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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Gepubliceerd in:Science
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2019
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Article
Online toegang: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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