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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...

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Sonraí Bibleagrafaíochta
Main Authors: Fedyna, Alison, Drayna, Dennis, Kang, Changsoo
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2010
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3024470/
https://ncbi.nlm.nih.gov/pubmed/20944643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2010.125
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