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Article

Genotype-guided diagnosis in familial hypercholesterolemia: population burden and cascade screening.

Current opinion in lipidology - 1 Apr 2017

Hopkins Paul N

Abstract excerpt

PURPOSE OF REVIEW: In this review, how genetic testing has provided major new insights regarding the population burden of familial hypercholesterolemia (FH) are reviewed. In addition, the role of genetic testing in cascade screening for FH and an updated MEDPED (Make Early Diagnoses to Prevent Early Death in MEDical PEDigrees) algorithm for the clinical diagnosis of FH are presented. RECENT FINDINGS: For the...

Topics

Early Diagnosis
Genotype
Humans
Hyperlipoproteinemia Type II
Mass Screening
Mutation
Prevalence

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28030379
DOI: 10.1097/MOL.0000000000000388

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