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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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2847162/
https://ncbi.nlm.nih.gov/pubmed/25488817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-009-0213-1
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