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Novel Carboxypeptidase A6 (CPA6) Mutations Identified in Patients with Juvenile Myoclonic and Generalized Epilepsy

Carboxypeptidase A6 (CPA6) is a peptidase that removes C-terminal hydrophobic amino acids from peptides and proteins. The CPA6 gene is expressed in the brains of humans and animals, with high levels of expression during development. It is translated with a prodomain (as proCPA6), which is removed be...

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Detalles Bibliográficos
Autores principales: Sapio, Matthew R., Vessaz, Monique, Thomas, Pierre, Genton, Pierre, Fricker, Lloyd D., Salzmann, Annick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395397/
https://www.ncbi.nlm.nih.gov/pubmed/25875328
http://dx.doi.org/10.1371/journal.pone.0123180