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.

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

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.

Afiliação

Leal A; Institute of Human Genetics, Friedrich-Alexander University, Schwabachanlage 10, 91054, Erlangen, Germany.

Neurogenetics ; 10(4): 375-376, 2009 10.

Article em En | MEDLINE | ID: mdl-25488817

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2009 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2009 Tipo de documento: Article