首页> European journal of human genetics : EJHG> Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

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第一作者： Solaf M,Elsayed

第一单位： 1] Medical Genetics Center, Cairo, Egypt [2] Children's Hospital, Ain Shams University, Cairo, Egypt.

作者： Solaf M,Elsayed ^[1] ; Raoul,Heller ^[2] ; Michaela,Thoenes ^[2] ; Maha S,Zaki ^[3] ; Daniel,Swan ^[4] ; Ezzat,Elsobky ^[1] ; Christine,Zühlke ^[5] ; Inga,Ebermann ^[2] ; Gudrun,Nürnberg ^[6] ; Peter,Nürnberg ^[6] ; Hanno J,Bolz ^[7]

作者单位： 1] Medical Genetics Center, Cairo, Egypt [2] Children's Hospital, Ain Shams University, Cairo, Egypt. ^[1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany. ^[2] Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt. ^[3] Computational Biology Group, Oxford Gene Technology, Oxford, UK. ^[4] Institute for Human Genetics, University of Lübeck, Campus Lübeck, Lübeck, Germany. ^[5] 1] Cologne Center for Genomics and Centre for Molecular Medicine, University of Cologne, Cologne, Germany [2] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany. ^[6] 1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany [2] Bioscientia Center for Human Genetics, Ingelheim, Germany. ^[7]