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Cascade Screening for Familial Hypercholesterolemia: PCR Methods with Melting-Curve Genotyping for the Targeted Molecular Detection of Apolipoprotein B and LDL Receptor Gene Mutations to Identify Affected Relatives

机译：家庭式高胆固醇血症的级联筛选：具有熔化曲线基因分型的PCR方法，用于载脂蛋白B和LDL受体基因突变的靶向分子检测，以鉴定受影响的亲属

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Sarojini Pandey; Michaela Leider; Mike Khan; Dimitris K. Grammatopoulos;
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1. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. [J] . Takada D, Emi M, Ezura Y, Journal of human genetics . 2002,第12期

机译：载有新突变的LDL受体基因与载脂蛋白A-II启动子变异之间的相互作用：在1135名成员的家族性高胆固醇血症中进行了分子研究。
2. A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia. [J] . Fard Esfahani P, Khatami S, Zeinali C, Clinical Biochemistry . 2005,第6期

机译：一种改良的构象敏感性凝胶电泳（CSGE）方法，用于快速准确地检测家族性高胆固醇血症中的低密度脂蛋白（LDL）受体基因突变。
3. Molecular Genetic Diagnosis of a Family with Hypercholesterolemia by a Mismatched PCR-RFLP Method for Genotyping Single Base Substitution of the LDL Receptor Gene [J] . Emi YAMAKI, Tsunenori HIRAYAMA, Lily L. Wu, Japanese heart journal . 1998,第5期

机译：通过错配PCR-RFLP方法对LDL受体基因的单碱基取代进行基因匹配的高胆固醇血症家庭的分子遗传学诊断。
4. Detection of Defective'Apolipoprotein B-100 R3500Q Mutation Caused Familial Hypercholesterolemia in Vietnamese Patients [C] . Phuong Kim Truong, Cong Van Bui, Thuan Due Lao International Conference on the Development of Biomedical Engineering in Vietnam . 2018

机译：检测缺陷的'Apolipoprotein B-100 R3500Q突变引起越南患者的家族高胆固醇血症
5. Design, Construction, and Verification of a LATE-PCR and Lights-On/Lights-Off Probe Assay for Mutation Detection in Exons 18-21 of the EGFR Gene: Implications for Molecular Diagnosis of Non-Small Cell Lung Carcinoma [D] . Tetrault, Shana Augustin 2012

机译：用于EGFR基因外显子18-21突变检测的LATE-PCR和开/关灯探针检测的设计，构建和验证：对非小细胞肺癌的分子诊断意义
6. Relationship between apolipoprotein(a) phenotype lipoprotein(a) concentration in plasma and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. [O] . A K Soutar, S N McCarthy, M Seed, 1991

机译：LDL受体基因pro664 ---- leu突变导致家族性高胆固醇血症的大家族中载脂蛋白（a）表型血浆脂蛋白（a）浓度与低密度脂蛋白受体功能之间的关系。
7. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. [O] . Loux, Nathalie, Saint-Jore, Bruno, Collod, Gwenaelle, 1992

机译：通过单链构象多态性方法筛选法国七个家族性高胆固醇血症家族中LDL受体基因的新突变。

Cascade Screening for Familial Hypercholesterolemia: PCR Methods with Melting-Curve Genotyping for the Targeted Molecular Detection of Apolipoprotein B and LDL Receptor Gene Mutations to Identify Affected Relatives

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