Article

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees

2024-09-11

Abstract excerpt

<title>Abstract</title> <p>Background GTPBP3 catalyzes τm<sup>5</sup>(s<sup>2</sup>) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τm<sup>5</sup>U leads to mitochondrial disease. While twenty-three variants of <italic>GTPBP3</italic> have been reported worldwide, the genetic landscape in China remains uncertain. Methods By using whole-exome sequencing, the candidate...

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Literature Corpus work: 52ef1dec-8589-5249-bdea-81f075789753
DOI: 10.21203/rs.3.rs-4634652/v1

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