Loss of function of cmpk2 causes mitochondria deficiency and brain calcification

HIGHLIGHTS

• who: Miao Zhao from the ethnically matched healthy control individualsInformed written consent was obtained from all participants prior to inclusion. This study was approved by the Institutional Ethnics Committee of the First Affiliated Hospital of Fujian Medical University (MRCTA, ECFAH of FMU [2019]198) and the Second Affiliated Hospital of Zhejiang University (I2019001149). Human genomic DNA was extracted from peripheral blood leukocytes using standard methods. For WES, whole exon libraries and whole genome libraries were prepared using Agilent SureSelect All Exon , MB (V6) capture kits. Sequencing was conducted using the Illumina HiSeq , platform with an average, u00d7 . . .
  

   

  

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