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Article

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

American journal of human genetics - 1 Aug 1996

Benlian P, Foubert L, Gagné E, Bernard L, De Gennes J L, Langlois S, Robinson W, Hayden M

Abstract excerpt

Uniparental disomy (UPD)-the inheritance of two homologous chromosomes from a single parent-may be unmasked in humans by the unexpected appearance of developmental abnormalities, genetic disorders resulting from genomic imprinting, or recessive traits. Here we report a female patient with familial chylomicronemia resulting from complete lipoprotein-lipase (LPL) deficiency due to homozygosity for a frameshift...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8755931
PMCID: PMC1914726

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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