换一批Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
第一作者：
Emma L,Blakely
第一单位：
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
作者：
医学主题词
青少年(Adolescent);成年人(Adult);儿童(Child);DNA, 线粒体(DNA, Mitochondrial);女(雌)性(Female);遗传变异(Genetic Variation);人类(Humans);MELAS综合征(MELAS Syndrome);男(雄)性(Male);中年人(Middle Aged);线粒体(Mitochondria);线粒体疾病(Mitochondrial Diseases);线粒体脑肌病(Mitochondrial Encephalomyopathies);点突变(Point Mutation);RNA(RNA);RNA, 转移(RNA, Transfer);序列分析, DNA(Sequence Analysis, DNA);青年人(Young Adult)
DOI
10.1002/humu.22358
PMID
23696415
发布时间
2025-05-29
基金项目
096919/Z/11/Z/WT_/Wellcome Trust/United Kingdom
096919/WT_/Wellcome Trust/United Kingdom
G108/539/MRC_/Medical Research Council/United Kingdom
NIHR-HCS-D12-03-04/DH_/Department of Health/United Kingdom
MR/K000608/1/MRC_/Medical Research Council/United Kingdom
G0601943/MRC_/Medical Research Council/United Kingdom
G0700718/MRC_/Medical Research Council/United Kingdom
G0800674/MRC_/Medical Research Council/United Kingdom
- 浏览24
Human mutation
1260-8页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
