A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population (Q60472322)

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1 November 2019

title

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12629567%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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1

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1 November 2019

author name string

M S Corbalán

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12629567%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

L Forga

3

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1 November 2019

J A Martinez

4

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1 November 2019

A Hinney

5

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1 November 2019

J Hebebrand

6

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1 November 2019

language of work or name

English

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publication date

1 March 2003

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12629567%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Obesity

1 November 2019

published in

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volume

27

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1 November 2019

page(s)

385-388

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1 November 2019

issue

3

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https://scigraph.springernature.com/pub.10.1038/sj.ijo.0802244

1 November 2019

exact match

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cites work

A frameshift mutation in human MC4R is associated with a dominant form of obesity

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A frameshift mutation in MC4R associated with dominantly inherited human obesity

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Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans

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7 January 2021

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

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7 January 2021

Identification and functional analysis of novel human melanocortin-4 receptor variants

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7 January 2021

Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene

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7 January 2021

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

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7 January 2021

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity

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7 January 2021

The genetics of obesity: practical implications

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7 January 2021

A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity

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7 January 2021

A missense mutation in the human melanocortin-4 receptor gene in relation to abdominal obesity and salivary cortisol

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7 January 2021

A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity

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Functional characterization of mutations in melanocortin-4 receptor associated with human obesity

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7 January 2021

Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype?

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The risk of obesity and the Trp64Arg polymorphism of the beta(3)-adrenergic receptor: effect modification by age.

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7 January 2021

Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin.

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