A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

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第一作者： Muzammil A,Khan

第一单位： Gomal Centre of Biochemistry and Biotechnology, Gomal University D.I.Khan, Khyber Pakhtoonkhuwa, Pakistan.

作者： Muzammil A,Khan ^[1] ; Verena M,Rupp ^[2] ; Meritxell,Orpinell ^[3] ; Muhammad S,Hussain ^[4] ; Janine,Altmüller ^[5] ; Michel O,Steinmetz ^[6] ; Christian,Enzinger ^[7] ; Holger,Thiele ^[8] ; Wolfgang,Höhne ^[8] ; Gudrun,Nürnberg ^[8] ; Shahid M,Baig ^[9] ; Muhammad,Ansar ^[10] ; Peter,Nürnberg ^[11] ; John B,Vincent ^[12] ; Michael R,Speicher ^[2] ; Pierre,Gönczy ^[3] ; Christian,Windpassinger ^[13]

作者单位： Gomal Centre of Biochemistry and Biotechnology, Gomal University D.I.Khan, Khyber Pakhtoonkhuwa, Pakistan. ^[1] Institute of Human Genetics and. ^[2] Swiss Institute for Experimental Cancer Research (ISREC), Swiss Federal Institute of Technology (EPFL), School of Life Sciences, Lausanne, Switzerland. ^[3] Cologne Center for Genomics (CCG), Institute of Biochemistry I, Medical Faculty. ^[4] Cologne Center for Genomics (CCG), Institute of Human Genetics. ^[5] Laboratory of Biomolecular Research, Department of Biology and Chemistry, Paul Scherrer Institut, Villigen PSI, Switzerland. ^[6] Department of Neurology, Medical University of Graz, Graz, Austria. ^[7] Cologne Center for Genomics (CCG). ^[8] Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan. ^[9] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan and. ^[10] Cologne Center for Genomics (CCG), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. ^[11] Molecular Neuropsychiatry and Development (MiND) Lab, The Campbell Family Brain Research Institute, The Centre for Addiction & Mental Health (CAMH), Toronto, Ontario, Canada. ^[12] Institute of Human Genetics and christian.windpassinger@medunigraz.at. ^[13]