Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing. (Q54232563)

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2 March 2020

title

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

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2

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Philippe Froguel

11

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Sadia Saeed

1

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Julien Philippe

4

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Mario Falchi

9

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author name string

Jaida Manzoor

3

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Emmanuelle Durand

5

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Mohsin Arshad

6

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Olivier Sand

7

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Taeed A Butt

8

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Muhammad Arslan

10

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publication date

9 December 2013

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volume

22

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issue

4

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page(s)

1112-1117

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From obesity genetics to the future of personalized obesity therapy

2 March 2020

cites work

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Congenital leptin deficiency is associated with severe early-onset obesity in humans

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High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.

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Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity

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Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

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Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

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Identifiers

DOI

10.1002/OBY.20667

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2 March 2020

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