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Article

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

Human molecular genetics - 15 Jan 2003

Lubrano-Berthelier Cecile, Durand Emmanuelle, Dubern Beatrice, Shapiro Astrid, Dazin Paul, Weill Jacques, Ferron Camille, Froguel Philippe, Vaisse Christian

Abstract excerpt

Heterozygous mutations in the coding region of the serpentine Melanocortin 4 receptor are the most common genetic cause of human obesity described to date. There are still conflicting data regarding the overall prevalence of such mutations in obesity and limited information is available on the fu...

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Source

Identifiers

PMID: 12499395
DOI: 10.1093/hmg/ddg016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12499395-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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