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Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.

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第一作者： Maike,Leferink

第一单位： Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

作者： Maike,Leferink ^[1] ; Daphne P W,Wong ^[2] ; Shiwei,Cai ^[2] ; Minli,Yeo ^[2] ; Jocelin,Ho ^[2] ; Mulias,Lian ^[3] ; Erik-Jan,Kamsteeg ^[1] ; Samuel S,Chong ^[4] ; Lonneke,Haer-Wigman ^[5] ; Ming,Guan ^[2]

作者单位： Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. ^[1] The BioFactory Pte Ltd, Singapore, Republic of Singapore. ^[2] Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore, Republic of Singapore. ^[3] Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore, Republic of Singapore.;Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Republic of Singapore.;Department of Laboratory Medicine, National University Hospital, Singapore, Republic of Singapore. ^[4] Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. Lonneke.Haer-Wigman@radboudumc.nl. ^[5]

医学主题词基因型(Genotype);人类(Humans);营养不良性肌强直(Myotonic Dystrophy);聚合酶链反应(Polymerase Chain Reaction);三核苷酸重复扩增(Trinucleotide Repeat Expansion);三核苷酸重复(Trinucleotide Repeats)

DOI 10.1038/s41598-019-44588-3

PMID 31164682

发布时间 2021-01-09

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