Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
Fecha
Autores
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.
Directores
Unidades organizativas
Handle
https://riunet.upv.es/handle/10251/201424
Cita bibliográfica
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
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Resumen
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ISSN
ISBN
Fuente
Journal of Medical Genetics
DOI
10.1136/jmg.2004.022178
Enlaces relacionados
Agradecimientos
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 Technology grants SAF2000-0082-C02-01 and SAF2003-00135, Fundacio¿ ``la Caixa¿¿ grant 02-004, Instituto de Salud Carlos III grant G03/56 for the
Spanish Network on Cerebellar Ataxias, and the GIS-Maladies Rares Consortium on Autosomal Recessive CMT. RC is a predoctoral fellow receiving the Fundacio¿ ``la Caixa¿¿ grant and LP is a recipient of a predoctoral fellowship from the Spanish Ministry of Science and Technology.