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Article

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.

The Journal of clinical endocrinology and metabolism - 1 Nov 2009

Cefalù Angelo B, Noto Davide, Arpi Maria Luisa, Yin Fen, Spina Rossella, Hilden Hannele, Barbagallo Carlo M, Carroccio Antonio, Tarugi Patrizia, Squatrito Sebastiano, Vigneri Riccardo, Taskinen Marja-Riitta, Péterfy Miklós, Averna Maurizio R

Abstract excerpt

CONTEXT: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was...

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Source

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Identifiers

PMID: 19820022
DOI: 10.1210/jc.2009-0594
PMCID: PMC2819827

Genes

LMF1
LPL
APOA5
APOC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19820022-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.PMID 19820022Read ↗

Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.Semantic proximity Read ↗

New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.Semantic proximity Read ↗

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.Semantic proximity Read ↗

Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smokingSemantic proximity Read ↗

Homozygous variant in LMF-1 identified in 3 Colombian families.Semantic proximity Read ↗

Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.Semantic proximity Read ↗

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemiaSemantic proximity Read ↗

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.Semantic proximity Read ↗

Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.Semantic proximity Read ↗

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.Semantic proximity Read ↗

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.Semantic proximity Read ↗

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.Semantic proximity Read ↗

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