基因基本信息 基因简称(symbol) MT-RNR1[HGNC][GeneCards][NCBI] 基因种类(locus group) non-coding RNA 同源简称(alias symbol) 基因家族代码(gene_family_id) 848[HGNC][GenScript] omim代码 561000 entrez码 4549[Vega] ensembl基因码 ENSG00000211459[Ensembl] ...
[3]. 3. Guan, M.X., N. Fischel-Ghodsian, and G. Attardi, Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Ge [4]. 4. 赵立东等, 与线粒体DNA A1555G突变有关的非综合征型耳聋. 中华耳科学杂志...
Increased risk of hearing loss associated withMT-RNR1gene mutations: a real-world investigation among Han Taiwanese PopulationTAIWANTAIWANESE peopleHEARING disordersLEBER'S hereditary optic atrophyGENETIC mutationSENSORINEURAL hearing lossPROPORTIONAL hazards models...
[ 关键词]耳聋;M T—RN Rl 基因;突变;氨基糖苷类药物[中图分类号]R764[ 文献标识码]A[文章编号]M utati o吣i n M T-瑚呵R1gene锄ong pati ents喇th dm gdeafne鼹i nU咖qi采集新疆乌鲁木齐地区人群的临床资料,M T—RN Rl1007.3434( 2013) 05-298-05W AN G Xi ao(ShaIl ghai zhongyouM edi ...
Method: Studies describing the prevalence/incidence of MT‐RNR1 gene mutations (A1555G, C1494T, A7445G) in the population. Relevant studies screening for presence for MT‐RNR1 in patients receiving aminoglycoside therapy were included. Results: Twenty‐two articles out of 67 full ...
Method: Studies describing the prevalence/incidence of MT-RNR1 gene mutations (A1555G, C1494T, A7445G) in the population. Relevant studies screening for presence for MT-RNR1 in patients receiving aminoglycoside therapy were included. Results: Twenty-two articles out of 67 full papers and 206s...
Leber's hereditary optic neuropathy is associated with the T14502C mutation in mitochondrial ND6 gene in three Han Chinese families Objective To report the clinical,genetic,and molecular characterizations of three Chinese families with Leber's hereditary optic neuropathy (LHON).Methods Experimental study...
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss The most frequently mutated genes identified in NSHL patients in China include GJB2, SLC26A4, and the mitochondrial gene MT-RNR1. It is important to develop HL gene pa...
The invention relates to methods and kits for determining the presence of a mutation selected from the group consisting of 1555A>G and 1494C>T in human Mitochondrially Encoded 12S RNA (MTRNR1 ) gene in a sample from a subject, comprising, , amplifying at least part of the MTRNR1 gene ...
The invention relates to methods and kits for determining the presence of a mutation selected from the group consisting of 1555A>G and 1494C>T in human Mitochondrially Encoded 12S RNA (MTRNR1 ) gene in a sample from a subject, comprising, inter alia , amplifying at least part of the MT...