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Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

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第一作者： Divya,Nagabushana

第一单位： Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.

作者： Divya,Nagabushana ^[1] ; Kiran,Polavarapu ^[2] ; Mainak,Bardhan ^[1] ; Gautham,Arunachal ^[3] ; Swetha,Gunasekaran ^[3] ; Veeramani,Preethish-Kumar ^[1] ; Ram Murthy,Anjanappa ^[1] ; PriyaTreesa,Thomas ^[4] ; Arun,Sadasivan ^[4] ; Seena,Vengalil ^[1] ; Saraswati,Nashi ^[1] ; Tanushree,Chawla ^[1] ; Manjusha,Warrier ^[4] ; Muddasu,Keerthipriya ^[1] ; Sanita,Raju ^[1] ; Dhaarini,Mohan ^[1] ; Atchayaram,Nalini ^[1]

作者单位： Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India. ^[1] Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.;Children's Hospital of Eastern Ontario Research Institute, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.;Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.;Brain and Mind Research Institute, University of Ottawa, ON, Canada. ^[2] Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India. ^[3] Department of Psychiatric Social Work, National Institute of Mental Health and Neurosciences, Bengaluru, India. ^[4]

关键词 Duchenne muscular dystrophy India carrier large deletions large duplications small pathogenic variants

医学主题词成年人(Adult);队列研究(Cohort Studies);肌营养不良蛋白(Dystrophin);外显子(Exons);女(雌)性(Female);移码突变(Frameshift Mutation);杂合子(Heterozygote);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);印度(India);肌营养不良, 杜氏(Muscular Dystrophy, Duchenne);突变, 误义(Mutation, Missense)

DOI 10.3233/JND-210658

PMID 33843695

发布时间 2021-12-20

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Journal of neuromuscular diseases

2021年8卷4期

525-535页

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Journal of neuromuscular diseases

2021年8卷4期

525-535页

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Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

Journal of neuromuscular diseases

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Journal of neuromuscular diseases

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Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

Journal of neuromuscular diseases

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Journal of neuromuscular diseases

相关期刊

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