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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Detaylı Bibliyografya
Yayımlandı:Science
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim: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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