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A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme
Recently, by whole exome sequencing of schizophrenia (SCZ) patients, we identified a subject that was homozygous for a novel missense substitution (c.391 A > G) in the glutamate acid decarboxylase 1 (GAD1) gene. GAD1 encodes for GAD67 enzyme, catalyzing the production of gamma-aminobutyric acid (...
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Pubblicato in: | Sci Rep |
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Autori principali: | , , , , , , , , , , , , |
Natura: | Artigo |
Lingua: | Inglês |
Pubblicazione: |
Nature Publishing Group UK
2018
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Soggetti: | |
Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6195539/ https://ncbi.nlm.nih.gov/pubmed/30341396 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-33924-8 |
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