Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncati...

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Detalles Bibliográficos
Autores principales: Alsters, Suzanne I. M., Goldstone, Anthony P., Buxton, Jessica L., Zekavati, Anna, Sosinsky, Alona, Yiorkas, Andrianos M., Holder, Susan, Klaber, Robert E., Bridges, Nicola, van Haelst, Mieke M., le Roux, Carel W., Walley, Andrew J., Walters, Robin G., Mueller, Michael, Blakemore, Alexandra I. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485893/
https://www.ncbi.nlm.nih.gov/pubmed/26120850
http://dx.doi.org/10.1371/journal.pone.0131417

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