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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

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Lupo, V.; García-García, F.; Sancho, P.; Tello, C.; García-Romero, M.; Villarreal, L.; Alberti, A.... (2016). Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. Journal of Molecular Diagnostics. 18(2):225-234. https://doi.org/10.1016/j.jmoldx.2015.10.005

Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10251/201210

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Title: Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
Author: Lupo, Vincenzo García-García, Francisco Sancho, Paula Tello, Cristina García-Romero, Mar Villarreal, Liliana Alberti, Antonia Sivera, Rafael Pascual-Pascual, Samuel I. Márquez-Infante, Celedonio Casasnovas, Carlos Sevilla, Teresa Espinós-Armero, Carmen Ángeles
UPV Unit: Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural
Issued date:
Abstract:
[EN] Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the ...[+]
Subjects: Charcot-Marie-Tooth disease , Hereditary motor neuropathy , Next generation sequencing , Genetic testing , Molecular diagnosis
Copyrigths: Reserva de todos los derechos
Source:
Journal of Molecular Diagnostics. (eissn: 1525-1578 )
DOI: 10.1016/j.jmoldx.2015.10.005
Publisher:
Elsevier
Publisher version: https://doi.org/10.1016/j.jmoldx.2015.10.005
Project ID:
info:eu-repo/grantAgreement/MINECO//CPII14%2F00002/ES/CPII14%2F00002/
info:eu-repo/grantAgreement/MINECO//PI12%2F00453/ES/Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/
info:eu-repo/grantAgreement/ISCIII//IR11%2FTREAT-CMT//Translational Research, Experimental Medicine and Therapeutics on Charcot-Marie-Tooth disease /
info:eu-repo/grantAgreement/ISCIII//PI12%2F00453//Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/
info:eu-repo/grantAgreement/ISCIII//CPII14%2F00002/
Thanks:
Supported by grants IR11/TREAT-CMT (C.E., CC., CM.-I., S.I.P.-P.) and PI12/00453 (C.E.) from the Institute de Salud Carlos III (ISCII)-Subdireccion General de Evaluation y Fomento de la Investigacion within the framework ...[+]
Type: Artículo

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