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Article

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.

The Canadian journal of cardiology - 1 Dec 2014

Farhan Sali M K, Robinson John F, McIntyre Adam D, Marrosu Maria G, Ticca Anna F, Loddo Sara, Carboni Nicola, Brancati Francesco, Hegele Robert A

Abstract excerpt

BACKGROUND: Familial lipodystrophies are rare inherited disorders associated with redistribution of body fat and development of dyslipidemia, insulin resistance, and diabetes. We previously reported 2 siblings with unusual late-onset familial partial lipodystrophy in whom heretofore known causative genes had been excluded. We hypothesized they had a mutation in a novel lipodystrophy gene. METHODS: Our approach...

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Source

Identifiers

PMID: 25475467
DOI: 10.1016/j.cjca.2014.09.007

Genes

LIPE

Variants

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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