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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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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2012
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| Soggetti: | |
| Accesso online: | 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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