Mitochondrial DNA B Resour
October 2021
The complete mitochondrial DNA (mtDNA) for was determined in this study. The length of complete mtDNA was 18,932 bp, including 13 protein-coding genes (PCGs) (, , , , and ), 23 tRNA genes, 2 rRNA genes, a L-chain replication-initiating non-coding region (NCR) and 2 control regions. The overall base composition of the sequence is 24.
View Article and Find Full Text PDFRenpenning syndrome is a group of X-linked intellectual disability syndromes caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. Little is known about the molecular pathogenesis of the various mutations that cause the notable variability in patients. In this study, we examine the cellular and synaptic functions of the most common mutations found in the patients: c.
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