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KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation
Goldberg–Shprintzen syndrome (GOSHS) is a rare clinical disorder characterized by central and enteric nervous system defects. This syndrome is caused by inactivating mutations in the Kinesin Binding Protein (KBP) gene, which encodes a protein of which the precise function is largely unclear. We show...
Autores principales: | Alves, Maria M., Burzynski, Grzegorz, Delalande, Jean-Marie, Osinga, Jan, van der Goot, Annemieke, Dolga, Amalia M., de Graaff, Esther, Brooks, Alice S., Metzger, Marco, Eisel, Ulrich L.M., Shepherd, Iain, Eggen, Bart J.L., Hofstra, Robert M.W. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297230/ https://www.ncbi.nlm.nih.gov/pubmed/20621975 http://dx.doi.org/10.1093/hmg/ddq280 |
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