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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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author: Bernal Morera  Ueli Suter  Michael Werner Sereda  Thomas Uhlmann  Kathrin Huehne  Ruth Martha Stassart  Dieter Heuss  Lisa Santolin  Corinna Berghoff  Finn Bauer  Martin Berghoff  Michael Meisterernst  Bernd Rautenstrauss  Philipp Berger  Gerd Meyer zu Hörste  Arif B. Ekici  Alejandro Leal  André Reis  James R. Lupski  Heinrich Sticht  Klaus-Armin Nave 

Publication date October 2009
Language English
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