Identification of cystic fibrosis mutations. [Adv Exp Med Biol. 1991] - PubMed

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Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population. [Hum Mol Genet. 1993]
Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.
Glavac D, Ravnik-Glavac M, Dean M. Hum Mol Genet. 1993 Mar; 2(3):315-6.
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome. [Hum Mutat. 1992]
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.
Macek M Jr, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. Hum Mutat. 1992; 1(6):501-2.
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A. [Hum Mutat. 1994]
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.
Mercier B, Audrézet MP, Feigelson J, Douchain F, Raguénès O, Verlingue C, Quéré I, Férec C. Hum Mutat. 1994; 4(3):224-6.
Review Probing the basic defect in cystic fibrosis. [Curr Opin Genet Dev. 1991]
Review Probing the basic defect in cystic fibrosis.
Tsui LC. Curr Opin Genet Dev. 1991 Jun; 1(1):4-10.
Review The relationship between genotype and phenotype in cystic fibrosis. [Curr Opin Pulm Med. 1995]
Review The relationship between genotype and phenotype in cystic fibrosis.
Kerem E, Kerem B. Curr Opin Pulm Med. 1995 Nov; 1(6):450-6.

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? [BMC Med Genet. 2004]
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. BMC Med Genet. 2004 Aug 2; 5:19. Epub 2004 Aug 2.

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Identification of cystic fibrosis mutations.
Identification of cystic fibrosis mutations.
Adv Exp Med Biol. 1991 ;290:45-51.

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