The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Keshavan, Nandaki; Abdenur, Jose; Anderson, Glenn; Assouline, Zahra; Barcia, Giulia; Bouhikbar, Lamia; Chakrapani, Anupam; Cleary, Maureen; Cohen, Marta C.; Feillet, François; Fratter, Carl; Hauser, Natalie; Jacques, Tom; Lam, Amanda; McCullagh, Helen; Phadke, Rahul; Rötig, Agnès; Sharrard, Mark; Simon, Mariella; Smith, Conrad; Sommerville, Ewen W.; Taylor, Robert W.; Yue, Wyatt W.; Rahman, Shamima

期刊名称Genetics in Medicine
作者Keshavan, Nandaki; Abdenur, Jose; Anderson, Glenn; Assouline, Zahra; Barcia, Giulia; Bouhikbar, Lamia; Chakrapani, Anupam; Cleary, Maureen; Cohen, Marta C.; Feillet, François; Fratter, Carl; Hauser, Natalie; Jacques, Tom; Lam, Amanda; McCullagh, Helen; Phadke, Rahul; Rötig, Agnès; Sharrard, Mark; Simon, Mariella; Smith, Conrad; Sommerville, Ewen W.; Taylor, Robert W.; Yue, Wyatt W.; Rahman, Shamima
印刷ISSN1098-3600
电子ISSN1530-0366
文件大小1265.06KB
发表时间2019-8-29
DOI10.1038/s41436-019-0613-z

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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency