Ontology highlight
ABSTRACT:
SUBMITTER: Tseng YT
PROVIDER: S-EPMC7667293 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Tseng Yen-Tzu YT Li Shang-Wei SW HuangFu Wei-Chun WC Yen Yun Y Liu I-Hsuan IH
Molecular genetics & genomic medicine 20200915 11
<h4>Background</h4>Mitochondrial DNA maintenance defects (MDMDs) is one of the critical pediatric dysfunction. One of the recent report indicated that a severe patient of MDMDs carries the NP_056528.2:p.Asn221Ser (N221S) variation in the RRM2B gene (NM_015713.5). However, there is no direct evidence demonstrating the nature of the N221S variation.<h4>Materials and methods</h4>This study aimed to utilize zebrafish and morpholino oligomer (MO) knockdown technique to provide direct evidence for the ...[more]