Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()

Non-synonymous mutations affecting both alleles of PCSK1 (proprotein convertase 1/3) are associated with obesity and impaired prohormone processing. We report a proband who was compound heterozygous for a maternally inherited frameshift mutation and a paternally inherited 474kb deletion that encompa...

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Autores principales: Frank, Graeme R., Fox, Joyce, Candela, Ninfa, Jovanovic, Zorica, Bochukova, Elena, Levine, Jeremiah, Papenhausen, Peter R., O'Rahilly, Stephen, Farooqi, I. Sadaf
Formato: Artigo
Lenguaje:Inglês
Publicado: Academic Press 2013
Materias:
Brief Communication
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759845/
https://ncbi.nlm.nih.gov/pubmed/23800642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.04.005
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