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Updated: Apr 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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外体序列测定识别了罕见的LDLR和APOA5等位基因,从而增加了心肌梗塞的风险

Ron Do1, Nathan O Stitziel2, Hong-Hee Won1

  • 11] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.

Nature
|December 10, 2014
PubMed
概括

在LDLR和APOA5基因的罕见突变显著增加早期发作的心肌梗塞 (MI) 的风险. 识别这些遗传因素对于理解和预防心脏病至关重要.

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