Genetic testing for familial hypercholesterolemia-past, present, and future.

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作者： Marta,Futema ^[1] ; Alison,Taylor-Beadling ^[2] ; Maggie,Williams ^[3] ; Steve E,Humphries ^[4]

作者单位： Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom; Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom. ^[1] Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children, London, United Kingdom. ^[2] Bristol Genetics Laboratory, Bristol, United Kingdom. ^[3] Institute of Cardiovascular Science, University College London, London, United Kingdom. Electronic address: steve.humphries@ucl.ac.uk. ^[4]

关键词 LDL-C LDLR SNP score clinical utility coronary heart disease index case monogenic next-generation sequencing polygenic variants of unknown significance

主题词基因检测(Genetic Testing);人类(Humans);高胆固醇血症Ⅱ型(Hyperlipoproteinemia Type II)

DOI 10.1016/j.jlr.2021.100139

PMID 34666015

发布时间 2023-09-21

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