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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Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. All mendelian patterns of inheritance have been described. We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican family with autosomal recessively inherited Charcot-Marie-Toot...

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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, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
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Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847151/
https://www.ncbi.nlm.nih.gov/pubmed/19290556
http://dx.doi.org/10.1007/s10048-009-0183-3
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