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Article

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica chimica acta; international journal of clinical chemistry - 5 Jun 2013

Ahmed Waqas, Whittall Ros, Riaz Moeen, Ajmal Muhammad, Sadeque Ahmed, Ayub Humaira, Qamar Raheel, Humphries Steve E

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes coding for the low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type-9 (PCSK9) or apo-lipoprotein B-100 (APOB). The aim of the present work was to determine the genetic basis of dyslipidemia in 11 unrelated Pakistani families. METHODS: High resolution melting (HRM),...

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Source

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Identifiers

PMID: 23535506
DOI: 10.1016/j.cca.2013.03.017
PMCID: PMC3701840

Genes

LDLR
PCSK9
APOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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