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A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course.

作者信息

Kuwabara Kozue, Kawarai Toshitaka, Ishida Yasushi, Miyamoto Ryosuke, Oki Ryosuke, Orlacchio Antonio, Nomura Yoshiko, Fukuda Mitsumasa, Ishii Eiichi, Shintaku Haruo, Kaji Ryuji

机构信息

Department of Pediatrics, Ehime Prefectural Central Hospital, Kasuga-cho 83, Matsuyama City, Ehime, 790-0024, Japan.

Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Kuramoto-cho 3-18-15, Tokushima City, 770-0042, Japan.

出版信息

Parkinsonism Relat Disord. 2018 Jan;46:87-89. doi: 10.1016/j.parkreldis.2017.10.019. Epub 2017 Oct 26.

DOI:10.1016/j.parkreldis.2017.10.019
PMID:29126763
Abstract
摘要

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