Zobrazeno 1 - 1
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pro vyhledávání: '"Aminoacyl tRNA synthtetas"'
Autor:
Thomas Meitinger, Sonja Budaeus, Tim M. Strom, Annette Seibt, Bader Alhaddad, Felix Distelmaier, Jörg Schaper, Holger Prokisch, Ertan Mayatepek, Tobias B. Haack, Fabian Baertling
Publikováno v:
Metab. Brain Dis. 32, 267-270 (2017)
VARS2 encodes a mitochondrial aminoacyl-tRNA-synthetase. Mutations in VARS2 have recently been identified as a cause of mitochondrial encephalomyopathy in three individuals. However, clinical information remained scarce. Exome sequencing lead us to i