Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts
활용도 Analysis
논문 Analysis
연구자 Analysis
저자
김희남
권순석
신민호
제어번호
105059397
학술지명
전남의대학술지
권호사항
Vol.
54
No.
1
[
2018
]
발행처
전남대학교 의과학연구소
자료유형
학술저널
수록면
31-35
언어
English
출판년도
2018
등재정보
KCI등재
소장기관
경북대학교 도서관 의학분관
영남대학교 의료원 의학도서관
판매처
'
Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts' 의 참고문헌
Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
The metabolic and molecular bases of inherited disease
The distribution and characteristics of LDL receptor mutations in China: A systematic review
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
Risk of fatal stroke in patients with treated familial hypercholesterolemia: a prospective registry study
Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population
Mutation- Taster evaluates disease-causing potential of sequence alterations
Monogenic hypercholesterolemia: new insights in pathogenesis and treatment
Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population
LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia
Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing
Familial hypercholesterolemia: etiology, diagnosis and new treatment options
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society
Effect of lipid-lowering treatment on natural history of heterozygous familial hypercholesterolemia in past three decades
Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting
Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China
Cohort profile: the Namwon study and the Dong-gu study
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease
A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
A receptor-mediated pathway for cholesterol homeostasis
A method and server for predicting damaging missense mutations
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Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts'
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