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

ABSTRACT: 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...

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Autores:

Arcos Burgos, Oscar Mauricio
Yupanqui Lozno, Hernan
Bastarrachea Sosa, Raul A.
Yupanqui Velazco, Maria E.
Álvarez Jaramillo, Mónica
Medina Méndez, Esteban
Giraldo Peña, Aida P.
Arias Serrano, Alexandra
Torres Forero, Carolina
García Ordoñez, Angélica María
Mastronardi, Claudio Alberto
Restrepo, Carlos M.
Rodríguez Ayala, Ernesto
Nava González, Edna Judith
Kent Jr., Jack W.
Cole, Shelley A.
Licinio, Julio
Celis Regalado, Luis Gustavo

Tipo de recurso:

Article of investigation

Fecha de publicación:

2019

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/31628

Acceso en línea:

https://hdl.handle.net/10495/31628
https://www.mdpi.com/2073-4425/10/5/342

Palabra clave:

Obesity
Obesidad
Obesity, Morbid
Obesidad Mórbida
Codon, Nonsense
Codón sin Sentido
Consanguinity
Consanguinidad

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/