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Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
Casals T, Pacheco P, Barreto C, Giménez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi JL, Pérez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X. Casals T, et al. Among authors: dapena j. Hum Mutat. 1997;10(5):387-92. doi: 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9375855
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.
Vazquez C, Antiñolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X. Vazquez C, et al. Among authors: dapena j. J Med Genet. 1996 Oct;33(10):820-2. doi: 10.1136/jmg.33.10.820. J Med Genet. 1996. PMID: 8933333 Free PMC 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: dapena j. 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.
Absence of Pneumocystis carinii carriers among patients with cystic fibrosis.
Varela JM, Dapena J, Regordán C, Blanco M, González de la Puente MA, Calderón EJ. Varela JM, et al. Among authors: dapena j. Eur J Clin Microbiol Infect Dis. 1998 Oct;17(10):741-2. doi: 10.1007/s100960050174. Eur J Clin Microbiol Infect Dis. 1998. PMID: 9865993 No abstract available.
71 results