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November 28, 2016PLoS ONEOpen Access

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

Renske I. Wadman Marloes Stam Marc Jansen Yana van der Weegen Camiel A. Wijngaarde Oliver Harschnitz Peter Sodaar Kees P. J. Braun Dennis Dooijes Henny H. Lemmink Leonard H. van den Berg W. Ludo van der Pol

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Abstract

SMN protein levels differ considerably between tissues and activity is age dependent in patients and controls. SMN protein levels in fibroblasts correlate with SMN2 copy number and have potential as a biomarker for disease severity.

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Wadman et al. (2016) studied this question.

synapsesocial.com/papers/69dd61dc7808b00a4799d6ac https://doi.org/10.1371/journal.pone.0167087

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