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Updated: Jun 29, 2026

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自体递归性高胆固醇血症是由假定的LDL受体适应蛋白质突变引起的

C K Garcia1, K Wilund, M Arca

  • 1McDermott Center for Human Growth and Development and Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.

Science (New York, N.Y.)
|April 28, 2001
PubMed
概括

自体递归性高胆固醇血症 (ARH) 与一种新型适应蛋白基因的突变有关. 这种蛋白质对于肝脏中低密度脂蛋白受体 (LDLR) 功能至关重要,解释了ARH病因.

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