A Novel Single Nucleotide T980C Polymorphism in the Human Carboxypeptidase E Gene Results in Loss of Neuroprotective Function

Report of a human with a homozygous truncating null mutation of the Carboxypeptidase E (CPE) gene with endocrinological and neurological deficits prompted us to search for other mutations in the human CPE gene that might be linked to disease. We searched an EST database and identified from a small p...

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Detalles Bibliográficos
Autores principales: Cong, Lin, Cheng, Yong, Cawley, Niamh X., Murthy, Saravana R. K., Loh, Y. Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256889/
https://www.ncbi.nlm.nih.gov/pubmed/28114332
http://dx.doi.org/10.1371/journal.pone.0170169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256889/
https://www.ncbi.nlm.nih.gov/pubmed/28114332
http://dx.doi.org/10.1371/journal.pone.0170169

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