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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2015
Gaiak:
Research Article
Sarrera elektronikoa: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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