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Updated: Jun 10, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

1p13のコレステロールロカスでSORT1経由で非コーディング変異からフェノタイプへ

Kiran Musunuru1, Alanna Strong, Maria Frank-Kamenetsky

  • 1Cardiovascular Research Center and Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.

Nature
|August 6, 2010
PubMed
まとめ

SORT1遺伝子の近くの一般的な遺伝的変異は,肝臓が非常に低密度のリポタンパク質粒子を生成する方法を変えることで,コレステロールレベルと心臓発作のリスクに影響を与えます. この発見は,リポプロテインの代謝と心血管疾患のリスクを管理するための新しい経路を明らかにします.

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