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Peer Reviewed Scientific Research Reports.
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1. Functional genetic analysis of mutations implicated in a human speech and language disorder.
Match Strength: 5.344
Mutations in the FOXP2 gene cause a severe communication disorder involving speech deficits (developmental verbal dyspraxia), accompanied by wide-ranging impairments in expressive and receptive language. The protein encoded by FOXP2 belongs to a divergent subgroup of forkhead-box transcription factors, with a distinctive DNA-binding domain and motifs that mediate hetero- and homodimerization. Here we report the first direct functional genetic investigation of missense and nonsense mutations in FOXP2 using human cell-lines, including a well-established neuronal model system. We focused on three ... Read More »
» Published in Hum Mol Genet. 2006 Nov 1;15(21):3154-67. Epub 2006 Sep 19.
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