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Several mitochondrial tRNA mutations have been associated with maternally inherited diabetes and deafness. However, the pathophysiology of these tRNA mutations remains poorly understood. In this… (More)
Autosomal dominant optic atrophy (ADOA) is a dominantly inherited optic neuropathy, affecting the specific loss of retinal ganglion cells (RGCs). The majority of affected cases of ADOA are associated… (More)
Objective:To analyze the genetic characteristics in nonsyndromic hearing impairment (NSHL) patients in Zhejiang province.Method:Peripheral blood samples were obtained from 1822 NSHL patients and 467… (More)
Mitochondrial tRNASer(UCN) gene mutation is closely related to acoustic nerve deafness. Some mutations can affect the structure and transcriptional processing of tRNASer(UCN), for instance m.7444G>A… (More)