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Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation
Stuttering is a disorder which affects the fluency of speech. It has been shown to have high heritability, and has recently been linked to mutations in the GNPTAB gene. One such mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual cases. Eight unrelated individuals...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3024470/ https://www.ncbi.nlm.nih.gov/pubmed/20944643 http://dx.doi.org/10.1038/jhg.2010.125 |