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Mitochondrial transfer RNA variants and primary congenital glaucoma.

Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis - 1 Jul 2016

Yi Quan-Yong, Deng Gang, Zhou Hong-Jian, Wu Guo-Hai, Tang Luosheng

Abstract excerpt

Variants in mitochondrial DNA (mtDNA) are the most important causes for vision loss, the mt-tRNA variants being the largest group among them. In this study, we report the molecular characterization of 15 mt-tRNA variants with primary congenital glaucoma (PCG). Based on phylogenetic approach, we found that only half of them were definitely pathogenic with PCG, other mutations were single nucleotide polymorphisms...

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Identifiers

PMID: 25835039
DOI: 10.3109/19401736.2015.1028050

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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