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Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.
Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J. Amaral MD, et al. Among authors: farinha cm. J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777. J Med Genet. 2001. PMID: 11732487 Free PMC article. No abstract available.
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: farinha cm. 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: farinha cm. 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: farinha cm. 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.
74 results