Lv51
880 积分 2024-02-29 加入
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) gene
1天前
已完结
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
1天前
已完结
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene
2天前
已完结
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
10天前
已完结
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
15天前
已完结
Nonsense-Mediated mRNA Decay in Human Health and Diseases: Current Understanding, Regulatory Mechanisms and Future Perspectives
25天前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
29天前
已完结
选择性剪接与无义介导的mRNA降解机制研究进展
1个月前
已完结
PTC下游翻译重启导致NMD途径的逃逸
1个月前
已完结
无义介导mRNA降解的肿瘤诊疗价值研究进展
1个月前
已完结
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