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Article

Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.

Obesity (Silver Spring, Md.) - 1 Apr 2014

Saeed Sadia, Bonnefond Amélie, Manzoor Jaida, Philippe Julien, Durand Emmanuelle, Arshad Mohsin, Sand Olivier, Butt Taeed A, Falchi Mario, Arslan Muhammad, Froguel Philippe

Abstract excerpt

OBJECTIVE: Mutations in leptin receptor gene (LEPR) result in early onset extreme adiposity. However, their prevalence in different populations is not known. Indeed, LEPR screening by gold standard Sanger sequencing has been limited by its large size and the cost. One-step PCR-based targeted enri...

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Source

Identifiers

PMID: 24319006
DOI: 10.1002/oby.20667

Genes

LEPR
LEP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24319006-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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