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Article

Prevalence of mutations in AGPAT2 among human lipodystrophies.

Diabetes - 1 Jun 2003

Magré Jocelyne, Delépine Marc, Van Maldergem Lionel, Robert Jean-Jacques, Maassen J Antonie, Meier Muriel, Panz Vanessa R, Kim Chong Ae, Tubiana-Rufi Nadia, Czernichow Paul, Seemanova Eva, Buchanan Charles R, Lacombe Didier, Vigouroux Corinne, Lascols Olivier, Kahn C Ronald, Capeau Jacqueline, Lathrop Mark

Abstract excerpt

Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous genetic disease characterized by near absence of adipose tissue and severe insulin resistance. We have previously identified mutations in the seipin gene in a subset of our patients' cohort. Recently, disease-causing mutations in AGPAT2 have been reported in BSCL patients. In this study, we have performed mutation screening in AGPAT2 and the...

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Source

Identifiers

PMID: 12765973
DOI: 10.2337/diabetes.52.6.1573

Genes

AGPAT2
AGPAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Prevalence of mutations in AGPAT2 among human lipodystrophies.PMID 12765973Read ↗

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Berardinelli-Seip congenital lipodystrophy.Semantic proximity Read ↗

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