Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

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第一作者： Stephanie,Kleinle

第一单位： Medical Genetics Center, Munich, Germany.

作者： Stephanie,Kleinle ^[1] ; Veronika,Scholz ^[1] ; Anna,Benet-Pagés ^[1] ; Tobias,Wohlfrom ^[2] ; Stefanie,Gehling ^[1] ; Florentine,Scharf ^[1] ; Simone,Rost ^[1] ; Eva-Christina,Prott ^[1] ; Susanne,Grinzinger ^[3] ; Anna,Hotter ^[4] ; Verena,Haug ^[5] ; Sabine,Niemeier ^[6] ; Lucia,Wiethoff-Ubrig ^[7] ; Tim,Hagenacker ^[8] ; Klaus,Goldhahn ^[9] ; Arpad,von Moers ^[10] ; Maggie C,Walter ^[10] ; Peter,Reilich ^[11] ; Katja,Eggermann ^[11] ; Florian,Kraft ^[12] ; Ingo,Kurth ^[12] ; Hannes,Erdmann ^[12] ; Elke,Holinski-Feder ^[1] ; Teresa,Neuhann ^[11] ; Angela,Abicht ^[1]

作者单位： Medical Genetics Center, Munich, Germany. ^[1] Institute of Neurogenomics, Helmholtz Center Munich, Neuherberg, Germany. ^[2] Practice for Human Genetic, Wuppertal, Germany. ^[3] Christian Doppler Clinic, Neurology, University Hospital Salzburg, Salzburg, Austria. ^[4] Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. ^[5] Neuropediatrics, University Medical Center Mainz, Mainz, Germany. ^[6] Westbrandenburg Clinic, Neuropediatrics, Potsdam, Germany. ^[7] Children's and Adolescents' Hospital Datteln, Neuropediatrics, Witten/Herdecke University, Datteln, Germany. ^[8] Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany. ^[9] Department of Pediatrics and Neuropediatrics, DRK Clinics Berlin, Berlin, Germany. ^[10] Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany. ^[11] Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[12] Department of Medicine IV, University Hospital, LMU Munich, Munich, Germany. ^[13]

关键词 5q-SMA bioninformatics clinical genetics dark genes neuromuscular disorders spinal muscular atrophy

主题词人类(Humans);纯合子(Homozygote);序列缺失(Sequence Deletion);肌萎缩, 脊髓性(Muscular Atrophy, Spinal);神经肌肉疾病(Neuromuscular Diseases);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing)

DOI 10.3233/JND-221668

PMID 37424474

发布时间 2023-10-18

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Journal of neuromuscular diseases

2023年10卷5期

835-846页

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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Journal of neuromuscular diseases

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Journal of neuromuscular diseases

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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Journal of neuromuscular diseases

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Journal of neuromuscular diseases

相关期刊

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