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Article

Restriction isotyping of the premature termination variant of lipoprotein lipase in Alberta Hutterites.

Clinical biochemistry - 1 Feb 1996

Hegele R A, Gandhi S, Brunt J H, Connelly P W

Abstract excerpt

OBJECTIVE: Lipoprotein lipase (LPL) plays a pivotal role in lipoprotein metabolism. A relatively common LPL variant results from a C --> G transversion in exon 9, which creates a premature termination codon (S447X) and results in a truncated LPL molecule lacking the C-terminal dipeptide Ser-Gly....

Topics

Alberta
Alleles
Codon, Terminator
DNA Primers
Electrophoresis, Polyacrylamide Gel
Ethnicity
Female
Genetic Markers
Genotype
Humans
Linkage Disequilibrium
Lipoprotein Lipase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Point Mutation

Polymerase Chain Reaction

Polymorphism, Genetic

Restriction Mapping

Source

Identifiers

PMID: 8929826
DOI: 10.1016/0009-9120(95)02004-7

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8929826-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Restriction isotyping of the premature termination variant of lipoprotein lipase in Alberta Hutterites.PMID 8929826Read ↗

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