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A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

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第一作者： Tomohiro,Kohmoto

第一单位： Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Lab, Faculty of Medicine, Tokushima University, Tokushima, Japan.

作者： Tomohiro,Kohmoto ^[1] ; Takuya,Naruto ^[2] ; Haruka,Kobayashi ^[1] ; Miki,Watanabe ^[1] ; Nana,Okamoto ^[3] ; Kiyoshi,Masuda ^[2] ; Issei,Imoto ^[2] ; Nobuhiko,Okamoto ^[4]

作者单位： Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Lab, Faculty of Medicine, Tokushima University, Tokushima, Japan. ^[1] Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan. ^[2] Department of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan. ^[3] Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan. ^[4]

DOI 10.1038/hgv.2015.43

PMID 27081549

发布时间 2020-10-01

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A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

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A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

Human genome variation

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Human genome variation

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