Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

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Detalles Bibliográficos
Autores principales: Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael Werner, Stassart, Ruth Martha, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Erratum
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847162/
https://www.ncbi.nlm.nih.gov/pubmed/25488817
http://dx.doi.org/10.1007/s10048-009-0213-1
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