|
|||||
|
|
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family |
|
| Authors: | Sandra Szczepanski Muhammad Sajid Hussain Ilknur Sur Janine Altmüller Holger Thiele Uzma Abdullah Syeda Seema Waseem Abubakar Moawia Gudrun Nürnberg Angelika Anna Noegel Shahid Mahmood Baig Peter Nürnberg |
| Affiliation: | 1. Cologne Center for Genomics (CCG), University of Cologne, 50931, Cologne, Germany 2. Institute of Biochemistry I, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany 3. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany 6. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931, Cologne, Germany 4. Institute of Human Genetics, University of Cologne, 50931, Cologne, Germany 5. Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan |
| Abstract: | |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |