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Article

Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).

Clinical genetics - 1 Feb 2000

Bertolini S, Simone M L, Pes G M, Ghisellini M, Rolleri M, Bellocchio A, Elicio N, Masturzo P, Calandra S

Abstract excerpt

We analyzed the molecular defect in the lipoprotein lipase (LPL) gene of a young boy from Sardinia who had primary hyperchylomicronemia, pancreatitis, and a complete LPL deficiency in post-heparin plasma. Analysis of LPL gene was performed by using single strand conformation polymorphism (SSCP) and direct sequencing of SSCP-positive region. The proband was homozygous for a C > A transversion in exon 6, which...

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Identifiers

PMID: 10735636
DOI: 10.1034/j.1399-0004.2000.570209.x

Genes

LPL

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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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