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...
Autores Principales: | , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Artículo (Article) |
Lenguaje: | Inglés (English) |
Publicado: |
MDPI AG
2019
|
Materias: | |
Acceso en línea: | https://repository.urosario.edu.co/handle/10336/24144 https://doi.org/10.3390/genes10050342 |