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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Udgivet i:PLoS One
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4485893/
https://ncbi.nlm.nih.gov/pubmed/26120850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131417
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