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Kaz M. Knight
Kaz M. Knight
University of Colorado Boulder
Myopathy
Mitochondrial DNA
Biology
Mitochondrial translation
Genetics
2
Papers
1
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0
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Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
2021
Molecular Genetics and Metabolism
Marisa W. Friederich
Gabrielle C. Geddes
Saskia B. Wortmann
Ann Punnoose
Eric P. Wartchow
Kaz M. Knight
Holger Prokisch
Geralyn Creadon-Swindell
Johannes A. Mayr
Johan L.K. Van Hove
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A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.
2020
Molecular Genetics and Metabolism
Kimberly A Kripps
Marisa W. Friederich
Ting Chen
Austin Larson
David M. Mirsky
Yue Wang
Kurenai Tanji
Kaz M. Knight
Lee-Jun C. Wong
Johan L.K. Van Hove
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