The single nucleotide variant at c.662A>G in human RRM2B is a loss‐of‐function mutation
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1497
Abstract: 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,… read more here.
Keywords: 662a human; rrm2b; human rrm2b; single nucleotide ... See more keywords
Pervasive within-Mitochondrion Single-Nucleotide Variant Heteroplasmy as Revealed by Single-Mitochondrion Sequencing.
Sign Up to like & getrecommendations! Published in 2017 at "Cell reports"
DOI: 10.1016/j.celrep.2017.11.031
Abstract: A number of mitochondrial diseases arise from single-nucleotide variant (SNV) accumulation in multiple mitochondria. Here, we present a method for identification of variants present at the single-mitochondrion level in individual mouse and human neuronal cells,… read more here.
Keywords: single mitochondrion; single nucleotide; revealed single; nucleotide variant ... See more keywords
High-Selectivity Single-Nucleotide Variant Capture Technology Based on the DNA Reaction Network.
Sign Up to like & getrecommendations! Published in 2022 at "Analytical chemistry"
DOI: 10.1021/acs.analchem.1c05280
Abstract: The extremely low abundance of circulating tumor DNA in blood samples has limited the development of liquid biopsy techniques for the early diagnosis of major diseases. In this study, we demonstrate a DRN-based screening technique,… read more here.
Keywords: nucleotide variant; dna; abundance; single nucleotide ... See more keywords