Identification of two LDL receptor mutations causing familial hypercholesterolemia in Indian subjects.

doi:10.1002/1098-2825(20001212)14:6<293::aid-jcla8>3.0.co;2-p

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Article

Identification of two LDL receptor mutations causing familial hypercholesterolemia in Indian subjects.

Journal of clinical laboratory analysis - 1 Jan 2000

Ashavaid T F, Kondkar A A, Nair K G

Abstract excerpt

Familial hypercholesterolemia (FH) is a genetic disorder caused by numerous mutations in the low-density lipoprotein receptor (LDLR) gene. Mutational analyses of Indians in South Africa suggest the possibility of a high frequency of FH in India. This study aimed at identifying mutations in exons 3, 4, 9, and 14 of the LDLR gene among Indians and at eventually developing population-directed molecular-based...

Topics

Apolipoproteins B
Cholesterol
Cholesterol, LDL
DNA
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific
Electrophoresis, Polyacrylamide Gel
Exons
Humans
Hyperlipoproteinemia Type II
India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Heteroduplexes

Point Mutation

Polymerase Chain Reaction

Receptors, LDL

South Africa

Source

Open in PubMed

Identifiers

PMID: 11138612
DOI: 10.1002/1098-2825(20001212)14:6<293::aid-jcla8>3.0.co;2-p

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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