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Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family |
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| Authors: | Julian Zielenski Danuta Markiewicz Shuan-Pei Lin Fu-Yuan Huang Teresa L. Yang-Feng Lap-Chee Tsui |
| Affiliation: | Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada;Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan;Department of Human Genetics, Yale University School of Medicine, New Haven, USA;Department of Molecular and Medical Genetics, University of Toronto, Toronto. Ontario, Canada |
| Abstract: | |
| Keywords: | CFTR cystic fibresis exon skipping splice mutation |