Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These mutations may cause nonsense-mediated mRNA decay, defective secretion or the phenom...

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Detalles Bibliográficos
Autores principales: Yupanqui-Lozno, Hernan, Bastarrachea, Raul A., Yupanqui-Velazco, Maria E., Alvarez-Jaramillo, Monica, Medina-Méndez, Esteban, Giraldo-Peña, Aida P., Arias-Serrano, Alexandra, Torres-Forero, Carolina, Garcia-Ordoñez, Angelica M., Mastronardi, Claudio A., Restrepo, Carlos M., Rodriguez-Ayala, Ernesto, Nava-Gonzalez, Edna J., Arcos-Burgos, Mauricio, Kent, Jack W., Cole, Shelley A., Licinio, Julio, Celis-Regalado, Luis G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562380/
https://www.ncbi.nlm.nih.gov/pubmed/31067764
http://dx.doi.org/10.3390/genes10050342

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