Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 431-434

  Vondráčková, Alžběta ^a   Veselá, Kateřina ^a   Kratochvílová, Hana ^a   Kučerová Vidrová, Vendula ^a   Vinšová, Kamila ^a   Stránecký, Viktor ^b   Honzík, Tomáš ^a   Hansíková, Hana ^a   Zeman, Jiří ^a   Tesařová, Markéta ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

CNVs; cytochrome c oxidase deficiency; mitochondrial disorders; SCO2; TYMP

Indexed keywords

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; CHILD; CHROMOSOMES, HUMAN, PAIR 22; DNA COPY NUMBER VARIATIONS; HUMANS; INFANT; INTESTINAL PSEUDO-OBSTRUCTION; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; POINT MUTATION; THYMIDINE PHOSPHORYLASE;

EID: 84894352830     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.148     Document Type: Article

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