Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease-Reference-Cited by-同舟云学术

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease

Published:2008-09-18 Issue:1 Volume:87 Page:31-41
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Guenther Ulf-Peter,Handoko Lusy,Varon Raymonda,Stephani Ulrich,Tsao Chang-Yong,Mendell Jerry R.,Lützkendorf Susanne,Hübner Christoph,von Au Katja,Jablonka Sibylle,Dittmar Gunnar,Heinemann Udo,Schuetz Anja,Schuelke Markus

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-008-0402-7.pdf

Reference30 articles.

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3. Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van ML, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29:75–77

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