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References
These sources were used to develop the Genetics Home Reference
gene summary
on the CFTR gene.
Cohn JA. Reduced CFTR function and the pathobiology of idiopathic pancreatitis. J Clin Gastroenterol. 2005 Apr;39(4 Suppl 2):S70-7. Review.
PubMed citation
Cuppens H, Cassiman JJ. CFTR mutations and polymorphisms in male infertility. Int J Androl. 2004 Oct;27(5):251-6. Review.
PubMed citation
Gadsby DC, Vergani P, Csanady L. The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature. 2006 Mar 23;440(7083):477-83. Review.
PubMed citation
Gene Review
Kulczycki LL, Kostuch M, Bellanti JA. A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. Am J Med Genet. 2003 Jan 30;116A(3):262-7. Review.
PubMed citation
Nick JA, Rodman DM. Manifestations of cystic fibrosis diagnosed in adulthood. Curr Opin Pulm Med. 2005 Nov;11(6):513-8. Review.
PubMed citation
Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res. 2001;2(6):328-32. Epub 2001 Aug 9. Review.
PubMed citation
Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod. 2007 May;22(5):1285-91. Epub 2007 Feb 28.
PubMed citation
Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005 May 12;352(19):1992-2001. No abstract available.
PubMed citation
Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet. 2007 Apr 20;8:22.
PubMed citation
Vankeerberghen A, Cuppens H, Cassiman JJ. The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros. 2002 Mar;1(1):13-29. Review.
PubMed citation
Reviewed: January 2008
Published: January 23, 2009