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

BACKGROUND: The hypothalamic G-protein-coupled-receptor melanocortin-4 receptor (MC4R) is a key player in the central circuit regulating energy expenditure and appetite. Heterozygous loss-of-function MC4R mutations are the most common known genetic cause of monogenic human obesity, with more than 20...

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Detalles Bibliográficos
Autores principales: Drabkin, Max, Birk, Ohad S., Birk, Ruth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090656/
https://www.ncbi.nlm.nih.gov/pubmed/30068297
http://dx.doi.org/10.1186/s12881-018-0654-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090656/
https://www.ncbi.nlm.nih.gov/pubmed/30068297
http://dx.doi.org/10.1186/s12881-018-0654-1

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