Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2013.10.020
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December 1, 2013
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Elsevier BV