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Article

Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.

Molecular biology reports - 1 Dec 2010

Ajmal Muhammad, Ahmed Waqas, Sadeque Ahmed, Ali Syeda Hafiza Benish, Bokhari Syed Habib, Ahmed Nuzhat, Qamar Raheel

Abstract excerpt

Familial Hypercholesterolemia (FH) results in elevated levels of blood lipids including total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) with normal triglycerides (TG). This disease is one of the major contributors towards an early onset of coronary heart disease (CHD). The aim of the present study was to identify the genes responsible for causing FH in Pakistani population, for this purpose...

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Source

Identifiers

PMID: 20217239
DOI: 10.1007/s11033-010-0043-0

Genes

LDLR
APOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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