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Mild Phenotype Associated with SLC6A1 Gene Mutation: A Case Report with Literature Review
The Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes the gamma-aminobutyric acid (GABA) transporter 1, which is one of the main GABA transporters. The clinical picture of SLC6A1 gene mutations is characterized by a broader spectrum including a mild-to-moderate intellectual disability, speech d...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712924/ https://www.ncbi.nlm.nih.gov/pubmed/31516630 http://dx.doi.org/10.4103/jpn.JPN_2_19 |