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Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.

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作者单位: Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. [1] Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan. [2] BioInformation Technology & Science, Tokyo, Japan. [3] Pacific Biosciences, Menlo Park, CA, USA. [4] Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG), Kumamoto University, Kumamoto, Japan. [5] Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan. [6] Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan. [7] Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan. [8] Department of Genomic Function and Diversity, Medical Research Institute Tokyo Medical and Dental University, Tokyo, Japan. [9] Department of Histology and Cell Biology, Yokohama City University Graduate School of Medicine, Yokohama, Japan. [10] Department of Neurology, Yokkaichi Municipal Hospital, Yokkaichi, Japan. [11] Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan. [12] Department of Neurology, National Hospital Organization Suzuka National Hospital, Suzuka, Japan. [13] Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. [14] Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. naomat@yokohama-cu.ac.jp. [15] Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. tmizu@yokohama-cu.ac.jp. [16]
DOI 10.1186/s13148-021-01192-5
PMID 34774111
发布时间 2022-02-17
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Clinical epigenetics

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