Literature DB >> 29173062

TK2-related Myopathic Mitochondrial Depletion Syndrome.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

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Year:  2017        PMID： 29173062     DOI： 10.1177/1093526617743906

Source DB:  PubMed          Journal:  Pediatr Dev Pathol        ISSN： 1093-5266


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  1 in total

1.  Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.

Authors:  Xianghong Li; Liangshan Li; Yaqi Sun; Fuyan Lv; Guoqing Zhang; Wenmiao Liu; Meiyan Zhang; Hong Jiang; Shiguo Liu
Journal:  BMC Med Genet       Date:  2019-08-27       Impact factor: 2.103
  1 in total

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