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Lupo, V.; Galindo, MI.; Martínez-Rubio, D.; Sevilla, T.; Vílchez, JJ.; Palau, F.; Espinós-Armero, CÁ. (2009). Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Human Molecular Genetics. 18(23):4603-4614. https://doi.org/10.1093/hmg/ddp427
Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10251/201217
Título: | Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway | |
Autor: | Lupo,Vincenzo Martínez-Rubio, Dolores Sevilla, Teresa Vílchez, Juan José Palau, Francesc Espinós-Armero, Carmen Ángeles | |
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Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. Here we demonstrate that the SH3TC2 protein is present ...[+]
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Derechos de uso: | Reserva de todos los derechos | |
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Versión del editor: | https://doi.org/10.1093/hmg/ddp427 | |
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This work was supported by the Fondo de Investigacion Sanitaria [grant numbers PI08/90857, PI08/0889, CP08/00053] and the Spanish Ministry Science and Innovation [grant number SAF2006-01047]. V. L. is a recipient of JAE ...[+]
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