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A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
PMID: 1284468 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Sildenafil (Viagra) corrects DeltaF508-CFTR location in nasal epithelial cells from patients with cystic fibrosis.
Dormer RL, Harris CM, Clark Z, Pereira MM, Doull IJ, Norez C, Becq F, McPherson MA.
Thorax. 2005 Jan; 60(1):55-9.
[Thorax. 2005]
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P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
Gilfillan A, Warner JP, Kirk JM, Marshall T, Greening A, Ho LP, Hargreave T, Stack B, McIntyre D, Davidson R, et al.
J Med Genet. 1998 Feb; 35(2):122-5.
[J Med Genet. 1998]
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Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Morral N, Llevadot R, Casals T, Gasparini P, Macek M Jr, Dörk T, Estivill X.
Am J Hum Genet. 1994 Nov; 55(5):890-8.
[Am J Hum Genet. 1994]
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