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
Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R. Lupski; Arif Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Ruth Martha Stassart; Gerd Meyer zu Horste; Klaus-Armin Nave; André Reis; Bernd Rautenstrauss
- 作者Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R. Lupski; Arif Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Ruth Martha Stassart; Gerd Meyer zu Horste; Klaus-Armin Nave; André Reis; Bernd Rautenstrauss
- 卷第10卷
- 期第4期
- 印刷ISSN1364-6745
- 电子ISSN1364-6753
- 文件大小47.73KB
- 发表时间2009-10
- DOI10.1007/s10048-009-0213-1
- 页码375-376