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-Reference-Cited by-同舟云学术

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

Published:2009-03-17 Issue:4 Volume:10 Page:275-287
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-009-0183-3.pdf

Reference56 articles.

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4. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA et al (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219–232 doi:10.1016/0092-8674(91)90613-4

5. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA et al (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1:93–97 doi:10.1016/0960-8966(91)90055-W

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