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Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

作者信息

Masuho Ikuo, Fang Mingyan, Geng Chunyu, Zhang Jianguo, Jiang Hui, Özgul Riza Köksal, Yılmaz Didem Yücel, Yalnızoğlu Dilek, Yüksel Deniz, Yarrow Anna, Myers Angela, Burn Sabrina C, Crotwell Patricia L, Padilla-Lopez Sergio, Dursun Ali, Martemyanov Kirill A, Kruer Michael C

机构信息

Department of Neuroscience (I.M., K.A.M.), Scripps Research Institute, Jupiter, FL; Shenzhen Key Laboratory of Neurogenomics (M.F., J.Z.), BGI-Shenzhen (M.F., C.G., J.Z., H.J.), Shenzhen, China; Department of Pediatric Metabolism (R.K.Ö., D.Y.Y., A.D.), Institute of Child Health; Department of Pediatric Neurology (D. Yalnızoğlu), Faculty of Medicine, Hacettepe University, Ankara, Turkey; Department of Pediatric Neurology (D. Yüksel), Dr. Sami Ulus Maternity and Children's Research and Training Hospital, Ministry of Health, Ankara, Turkey; Sanford Children's Health Research Center (A.Y., A.M., S.C.B., P.L.C.), Sioux Falls, SD; Department of Child Health (S.P.-L., M.C.K.), University of Arizona College of Medicine, Phoenix, AZ; Movement Disorders Center and Neurogenetics Research Program (S.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; and Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ.

出版信息

Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/848c/4866576/1ca6241a9405/NG2015001560FF1.jpg

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