Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

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Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

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scientific article published on 02 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Heterozygous versus homozygous ...... a large consanguineous kindred

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Heterozygous versus homozygous ...... a large consanguineous kindred

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Heterozygous versus homozygous ...... a large consanguineous kindred

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Heterozygous versus homozygous ...... a large consanguineous kindred

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Heterozygous versus homozygous ...... a large consanguineous kindred

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Heterozygous versus homozygous ...... a large consanguineous kindred

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Heterozygous versus homozygous ...... a large consanguineous kindred

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P2093

Ruth Birk

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P2860

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

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

A frameshift mutation in MC4R associated with dominantly inherited human obesity

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

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

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

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

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s12881-018-0654-1

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135

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scholarly article

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10.1186/S12881-018-0654-1

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English

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Ohad S Birk

Max Drabkin

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2018-08-02T00:00:00Z

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30068297

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6090656

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