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Article

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

Atherosclerosis - 1 Feb 2018

Pek Sharon Li Ting, Dissanayake Sanjaya, Fong Jessie Choi Wan, Lin Michelle Xueqin, Chan Eric Zit Liang, Tang Justin I-Shing, Lee Chee Wan, Ong Hean Yee, Sum Chee Fang, Lim Su Chi, Tavintharan Subramaniam

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by the presence of high plasma low density lipoproteins cholesterol (LDL-c). Patients with FH, with mutation detected, are at increased risk of premature cardiovascular disease compared to those without mutations. The aim of the study was to assess the type of mutations in patients, clinically diagnosed...

Read the complete abstract on PubMed

Topics

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Share to Apolipoprotein B-100
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Hyperlipoproteinemia Type II

Share to Multiplex Polymerase Chain Reaction

Share to Proprotein Convertase 9

Share to Receptors, LDL

Share to Singapore

Source

Identifiers

PMID: 29353225
DOI: 10.1016/j.atherosclerosis.2017.12.028

Genes

LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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