Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference11 articles.
1. Diana, A., Polizzi, A. M., Santostasi, T., Ratclif, L., Pantaleo, M. G., Leonetti, G. et al. The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies. J. Hum. Genet. 61, 473–481 (2016).
2. Lucarelli, M., Pierandrei, S., Bruno, S. M. & Strom, R. in: Cystic Fibrosis - Renewed Hopes Through Research 91−122 (Intech, Rijeka, Croatia, 2012).
3. El-Seedy, A., Girodon, E., Norez, C., Pajaud, J., Pasquet, M. C., de Becdelièvre, A. et al. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes. Hum. Mutat. 33, 1557–1565 (2012).
4. Farhat, R., Puissesseau, G., El-Seedy, A., Pasquet, M. C., Adolphe, C., Corbani, S. et al. N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing. Biomed. Res. Int. 2015, 138103 (2015).
5. Farhat, R., El-Seedy, A., El-Moussaoui, K., Pasquet, M. C., Adolphe, C., Bieth, E. et al. Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations. Biochem. Cell Biol. 93, 28–37 (2015).
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献