| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833457 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠Linkage studies are rapidly identifying new loci for stuttering. ⺠To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. ⺠These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. ⺠Stuttering individuals studied to date showed no symptoms of mucolipidosis. ⺠Deficits in intracellular trafficking and reduced enzyme half-life are present.
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Authors
Changsoo Kang, Dennis Drayna,