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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

作者信息

El-Wahsh Shadi, Fellner Avi, Hobbs Matthew, Copty Joe, Deveson Ira, Stevanovski Igor, Stoll Marion, Zhu Danqing, Narayanan Ramesh K, Grosz Bianca, Worgan Lisa, Cheong Pak Leng, Yeow Dennis, Rudaks Laura, Hasan Md Mehedi, Hayes Vanessa M, Kennerson Marina, Kumar Kishore R, Hayes Michael

机构信息

Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.

Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.

出版信息

Mov Disord Clin Pract. 2024 May;11(5):582-585. doi: 10.1002/mdc3.14023. Epub 2024 Mar 18.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6443/11078477/ba3dd95754ba/MDC3-11-582-g001.jpg

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