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Page 1
Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D. Chevalier-Porst F, et al. J Med Genet. 1994 Jul;31(7):541-4. doi: 10.1136/jmg.31.7.541. J Med Genet. 1994. PMID: 7525963 Free PMC article.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
Claustres M, Altiéri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M. Claustres M, et al. Among authors: chevalier porst f. BMC Med Genet. 2004 Aug 2;5:19. doi: 10.1186/1471-2350-5-19. BMC Med Genet. 2004. PMID: 15287992 Free PMC article.
Mutation analysis in 11 French patients with Fabry disease.
Guffon N, Froissart R, Chevalier-Porst F, Maire I. Guffon N, et al. Among authors: chevalier porst f. Hum Mutat. 1998;Suppl 1:S288-90. doi: 10.1002/humu.1380110190. Hum Mutat. 1998. PMID: 9452111 No abstract available.
14 results