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Page 1
R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT, Ramalho S, Silva IAL, Felício V, Botelho HM, de Poel E, Vonk A, Beekman JM, Farinha CM, Amaral MD. Awatade NT, et al. Among authors: amaral md. J Cyst Fibros. 2019 Mar;18(2):182-189. doi: 10.1016/j.jcf.2018.07.001. Epub 2018 Jul 18. J Cyst Fibros. 2019. PMID: 30030066 Free article.
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.
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F. Amaral MD, et al. J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23. doi: 10.1016/j.jcf.2004.05.047. J Cyst Fibros. 2004. PMID: 15463919 Free article. Review.
212 results