在高胆固醇贫血患者中报告的LDLR误解变异的细胞和功能评估表明它们对贩运和LDL内部化的低形态影响

Aseel A Jawabri1, Anne John1, Mohammad A Ghattas2

  • 1Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Abu Dhabi, United Arab Emirates.

概括

家族性高胆固醇血症 (FH) 通常是由低密度脂蛋白受体 (LDLR) 突变引起的. 这项研究分析了LDLR变体,发现许多影响LDL内部化,有助于FH变异性,并建议治疗点.

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