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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene
Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, JaVolume:
38
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23196
Date:
May, 2017
File:
PDF, 423 KB
english, 2017