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Naturally Occurring Carboxypeptidase A6 Mutations: EFFECT ON ENZYME FUNCTION AND ASSOCIATION WITH EPILEPSY

Carboxypeptidase A6 (CPA6) is a member of the A/B subfamily of M14 metallocarboxypeptidases that is expressed in brain and many other tissues during development. Recently, two mutations in human CPA6 were associated with febrile seizures and/or temporal lobe epilepsy. In this study we screened for a...

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Detalhes bibliográficos
Main Authors: Sapio, Matthew R., Salzmann, Annick, Vessaz, Monique, Crespel, Arielle, Lyons, Peter J., Malafosse, Alain, Fricker, Lloyd D.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522286/
https://ncbi.nlm.nih.gov/pubmed/23105115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.414094
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