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Article

The molecular defects in lipoprotein lipase deficient patients.

European journal of epidemiology - 1 May 1992

Fojo S S, Beg O, Dichek H, Brewer H B

Abstract excerpt

The underlying molecular defects that lead to a deficiency of lipoprotein lipase in two patients from different kindreds presenting with the familial hyperchylomicronemia syndrome have been identified. Sequence analysis of amplified LPL cDNA of the patient from the Bethesda kindred revealed a single point mutation (G to A) at position 781 of the normal gene that resulted in the substitution of an alanine for a...

Topics

Alleles
Gene Expression Regulation, Enzymologic
Heterozygote
Homozygote
Humans
Hyperlipoproteinemia Type I
Mutation
Polymerase Chain Reaction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1505655
DOI: 10.1007/BF00145351

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1505655-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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The molecular defects in lipoprotein lipase deficient patients.PMID 1505655Read ↗

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Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.Semantic proximity Read ↗

A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.Semantic proximity Read ↗

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