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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

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Claramunt, R.; Pedrola, L.; Sevilla, T.; López De Munaín, A.; Berciano, J.; Cuesta, A.; Sánchez-Navarro, B.... (2005). Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. Journal of Medical Genetics. 42(4):358-365. https://doi.org/10.1136/jmg.2004.022178

Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10251/201424

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Title: Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
Author: Claramunt, R. Pedrola, L. Sevilla, T. López de Munaín, A. Berciano, J. Cuesta, A. Sánchez-Navarro, B. Millán, J. M. Saifi, G.M. Lupski, J.R. Vilchez, J.J. Espinós-Armero, Carmen Ángeles Palau, F.
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:
Copyrigths: Reconocimiento - No comercial (by-nc)
Source:
Journal of Medical Genetics. (eissn: 0022-2593 )
DOI: 10.1136/jmg.2004.022178
Publisher:
BMJ
Publisher version: https://doi.org/10.1136/jmg.2004.022178
Project ID:
info:eu-repo/grantAgreement/ISCIII//G03%2F56/
info:eu-repo/grantAgreement/MICYT//SAF2003-00135/
info:eu-repo/grantAgreement/MICYT//SAF2000-0082-C02-01/
Thanks:
We are grateful for the kind collaboration of patients and families. We also thank Dr E Nelis and Dr V Timmerman for providing DNA samples from family PN860. This work was supported by Spanish Ministry of Science and ...[+]
Type: Artículo

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