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

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

*Corresponding author for this work

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