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Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD. Beck S, et al. Among authors: amaral md. Hum Mutat. 1999;14(2):133-44. doi: 10.1002/(SICI)1098-1004(1999)14:2<133::AID-HUMU5>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10425036
Analysis of genomic CFTR DNA.
Férec C, Le Maréchal C, Audrézet MP, Farinha CM, Amaral MD, Gallati S, Sanz J, Steiner B, Mouchel N, Harris A, Schwarz MJ. Férec C, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:7-10. doi: 10.1016/j.jcf.2004.05.003. J Cyst Fibros. 2004. PMID: 15463917 Free article. Review.
Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.
Ramalho AS, Beck S, Farinha CM, Clarke LA, Heda GD, Steiner B, Sanz J, Gallati S, Amaral MD, Harris A, Tzetis M. Ramalho AS, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:11-5. doi: 10.1016/j.jcf.2004.05.004. J Cyst Fibros. 2004. PMID: 15463918 Free article. Review.
Non-PCR methods for the analysis of CFTR transcripts.
Trezise AE, Farinha CM, Heda GD, Harris A, Amaral MD, Mouchel N. Trezise AE, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:25-8. doi: 10.1016/j.jcf.2004.05.005. J Cyst Fibros. 2004. PMID: 15463920 Free article. Review.
209 results