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Article

A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2002

Ikeda Yasuyuki, Takagi Atsuko, Nakata Yuusei, Sera Yasuhiko, Hyoudou Sumio, Hamamoto Kazuko, Nishi Yoshikazu, Yamamoto Akira

Abstract excerpt

CASE REPORT: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t(+2)c; a T-to-C transition in the invariant GT at...

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Source

Identifiers

PMID: 11750290
DOI: 10.1016/s0009-8981(01)00746-x

Genes

LPL

Provenance

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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