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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: guittard c. BMC Med Genet. 2004 Aug 2;5:19. doi: 10.1186/1471-2350-5-19. BMC Med Genet. 2004. PMID: 15287992 Free PMC article.
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M. Taulan M, et al. Among authors: guittard c. BMC Med Genet. 2007 Apr 20;8:22. doi: 10.1186/1471-2350-8-22. BMC Med Genet. 2007. PMID: 17448246 Free PMC article.
UMD-CFTR: a database dedicated to CF and CFTR-related disorders.
Bareil C, Thèze C, Béroud C, Hamroun D, Guittard C, René C, Paulet D, Georges Md, Claustres M. Bareil C, et al. Among authors: guittard c. Hum Mutat. 2010 Sep;31(9):1011-9. doi: 10.1002/humu.21316. Hum Mutat. 2010. PMID: 20607857
41 results