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Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
Bosch B, Bilton D, Sosnay P, Raraigh KS, Mak DYF, Ishiguro H, Gulmans V, Thomas M, Cuppens H, Amaral M, De Boeck K. Bosch B, et al. Among authors: de boeck k. J Cyst Fibros. 2017 Jul;16(4):488-491. doi: 10.1016/j.jcf.2017.01.016. Epub 2017 Feb 21. J Cyst Fibros. 2017. PMID: 28233695 Free article.
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: de boeck k. 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.
276 results