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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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エクソームシーケンシングにより,心筋梗塞のリスクを与える珍しいLDLRおよびAPOA5アレルが特定されます

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
まとめ

LDLRおよびAPOA5遺伝子の希少な変異は,早期発症心筋梗塞 (MI) のリスクを大幅に増加させます. これらの遺伝的要因を特定することは,心臓病を理解し,予防するために非常に重要です.

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