Discussion on genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis [4]

Gastroenterology

Volumn 125, Issue 4, 2003, Pages 1286-

  Dray, Xavier ^a   Marteau, Philippe ^a   Bienvenu, Thierry ^b   Dusser, Daniel ^b   Hubert, Dominique ^b  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b Hôpital Cochin ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALCOHOL CONSUMPTION; CFTR GENE; COHORT ANALYSIS; CYSTIC FIBROSIS; EXON; FRAMESHIFT MUTATION; GALLSTONE; GENE; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; PANCREAS INSUFFICIENCY; PANCREATITIS; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; STOP CODON;

EID: 0141594575     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gastro.2003.08.016     Document Type: Letter

References (4)

1. Durno C, Corey M, Zielenski J, Tullis E, Tsui L, Durie P. Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis, Gastroenterology 2002;123:1857-1864.
2. Welsh M, Smith A. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-1254.
3. Claustres M, Laussel M, Desgeorges M, Giansily M, Culard J, Ratakatsara G, et al. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in the southern France. Hum Mol Genet 1993;2:1209-1213.
4. Mickle J, Macek MJ, Fulmer-Smentek S, Egan M, Schwiebert E, Guggino W, et al. A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. Hum Mol Genet 1998;7:729-735.