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Page 1
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Claustres M, et al. Among authors: chomel jc. Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10923036
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: chomel jc. 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.
Unusual segregation of cystic fibrosis allele to males.
Kitzis A, Chomel JC, Kaplan JC, Giraud G, Labbe A, Dastugue B, Dumur V, Farriaux JP, Roussel P, Williamson R, et al. Kitzis A, et al. Among authors: chomel jc. Nature. 1988 May 19;333(6170):215. doi: 10.1038/333215a0. Nature. 1988. PMID: 3368001 No abstract available.
Unusual segregation of cystic fibrosis alleles.
Kitzis A, Chomel JC, Haliassos A, Tesson L, Kaplan JC, Feingold J, Giraud G, Lable A, Dastugue B, Dumur V, et al. Kitzis A, et al. Among authors: chomel jc. Nature. 1988 Nov 24;336(6197):316. doi: 10.1038/336316a0. Nature. 1988. PMID: 3194017 No abstract available.
93 results