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