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Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy
Sonia Emperador, M Pilar Bayona-Bafaluy, Ana Fernández-Marmiesse, Mercedes Pineda, Blanca Felgueroso, Ester López-Gallardo, Rafael Artuch, Iria Roca, Eduardo Ruiz-Pesini, María Luz Couce, Julio Montoya
Eur J Hum Genet. 2017 Jan; 25(1): 153–156. Published online 2016 Sep 28. doi: 10.1038/ejhg.2016.124
PMCID:
PMC5159760
AbstractArticlePDF–800K

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