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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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| Τόπος έκδοσης: | Science |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
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| Θέματα: | |
| Διαθέσιμο Online: | 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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