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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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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Sapio, Matthew R., Vessaz, Monique, Thomas, Pierre, Genton, Pierre, Fricker, Lloyd D., Salzmann, Annick
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4395397/
https://ncbi.nlm.nih.gov/pubmed/25875328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0123180
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