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Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

机译：与家族性高胆固醇血症相关的公共LDLR，APOB和PCSK9变异分析：ACMG指南的应用和家族性高胆固醇血症诊断的影响

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Joana Rita Chora; Ana Margarida Medeiros; Ana Catarina Alves; Mafalda Bourbon;
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1. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. [J] . Joana Rita Chora, Ana Margarida Medeiros, Ana Catarina Alves, Genetics in medicine . 2018,第6期

机译：与家族性高胆固醇血症相关的公共LDLR，APOB和PCSK9变异分析：ACMG指南的应用和对家族性高胆固醇血症诊断的影响。
2. ANALYSIS OF THE LDLR, APOB, PCSK9 AND LDLRAP1 GENES VARIABILITY IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN WEST SIBERIA USING TARGETED HIGH THROUGHPUT RESEQUENCING [J] . Shakhtshneider E., Ivanoshchuk D., Orlov P., Atherosclerosis . 2019,第期

机译：利用靶向高通量重新计算，在西西伯利亚家族高胆固醇血症患者中分析LDLR，APOB，PCSK9和LDLRAP1基因变异性
3. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients [J] . Hori Mika, Ohta Naotaka, Takahashi Atsushi, Atherosclerosis . 2019,第期

机译：LDLR和PCSK9致病变异在日本杂合子家族高胆固醇血症患者的影响
4. Plasma levels of SCD40L are associated with HDL-cholesterol and apoA-1 in patients with clinical diagnosis of familial hypercholesterolemia (FH). [C] . Idzior-Walus B., Hubalewska-Dydejczyk A., Walus-Miarka M., International Congress on Coronary Artery Disease . 2009

机译：SCD40L的血浆水平与家族性高胆固醇血症（FH）临床诊断患者的HDL-胆固醇和APOA-1相关。
5. Hyperlipidemia in the pediatric patient:: Are statins indicated in children with hypercholesterolemia in the absence of a history of familial hypercholesterolemia? [D] . Hochberger, Erika. 2011

机译：小儿患者的高脂血症：：在没有家族性高胆固醇血症病史的高胆固醇血症患儿中，他汀类药物是否适用？
6. Genetic Polymorphisms in LDLR APOB PCSK9 and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia [O] . Say-Hean Lye, Jagdish Kaur Chahil, Pramod Bagali, -1

机译：马来西亚家族性高胆固醇血症相关的LDLRAPOBPCSK9和其他脂质相关基因的遗传多态性
7. Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia. [O] . Say-Hean Lye, Jagdish Kaur Chahil, Pramod Bagali, 2013

机译：LDLR，apOB，pCsK9和其他与马来西亚家族性高胆固醇血症相关的脂质相关基因的遗传多态性。

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

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