Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens

Pflugers Archiv European Journal of Physiology

Volumn 439, Issue 7, 2000, Pages R53-R55

  Ravnik Glavač, Metka ^a   Dean, Michael ^b   Glavač, Damjan ^a  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

CFTR gene mutations; congenital bilateral absence of the vas deferens; cystic fibrosis; cystic fibrosis transmembrane conductance regulator; polyvariant CFTR genes

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; ALLELE; ARTICLE; CFTR GENE; CLINICAL ARTICLE; CONGENITAL ABSENCE OF THE VAS DEFERENS; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTRON; MALE; MALE GENITAL TRACT MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; VAS DEFERENS; AMINO ACID SUBSTITUTION; CONGENITAL MALFORMATION; GENE FREQUENCY; GENETICS; HAPLOTYPE; MISSENSE MUTATION; MUTATION;

ALLELES; AMINO ACID SUBSTITUTION; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE FREQUENCY; HAPLOTYPES; HETEROZYGOTE; HUMANS; INTRONS; MALE; MUTATION; MUTATION, MISSENSE; VARIATION (GENETICS); VAS DEFERENS;

EID: 0033629486     PISSN: 00316768     EISSN: 14322013     Source Type: Journal    
DOI: 10.1007/BF03376521     Document Type: Article

References (9)

1. Dork T. Dwomiczak B, Aulehla-Scholz C, et al. (1997) Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 100:365–377.
2. FitzSimmons S (1993) The changing epidemiology of cystic fibrosis. J Pediatr 122:1–9.
3. Nelson RE (1950) Congenital absence of the vas deferens: a review of the literature and report of three cases. J Urol 63:176–182.
4. Oates RD, Amos JA (1994) The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 15:1–8.
5. Anguiano A, Oates RD, Amos JA, Dean M, et al. (1992) Congenital bilateral absence of the vas deferens. A primary genital form of cystic fibrosis. J Am Med Assoc 267:1794–1797.
6. Chillon M. Casals T, Mercier B, Bassas L, et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital bilateral absence of the vas deferens. N Engl J Med 332(22):1475–1480.
7. Cuppens H, Lin W, Jaspers M, Costes B, et al. (1998) Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. J Clin Invest 101(2):487–496.
8. Ravnik-Glavač M, Glavač D, Dean M (1994) Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in CFTR gene. Hum Mol Genet 3(5): 801–807.
9. Zielenski J, Rozmahel R, Bozon D, Kerem B-S et al. (1991) Genomic DNA sequence of the cystic fibrosis trensmembrane conductance regulator (CFTR) gene.