FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 328:446-447 February 11, 1993 Number 6 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text Purchase this article Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

To the Editor: We have previously described an increased frequency of the F₅₀₈ mutation of the cystic fibrosis gene in a group of patients with congenital absence of the vas deferens¹. This suggested that patients heterozygous for the F₅₀₈ mutation may have a mutation on another allele. We have looked for other mutations of the cystic fibrosis gene in a group of 23 patients with congenital absence of the vas deferens, 11 of whom were heterozygous for the F₅₀₈ mutation. We found that four patients were compound heterozygotes, all having an R117H mutation in exon 4 of the cystic . . . [Full Text of this Article]

References

This article has been cited by other articles:

• Southernl, K W, Peckham, D (2004). Establishing a diagnosis of cystic fibrosis. Chronic Respiratory Disease 1: 205-210 [Abstract]  
• Pont-Kingdon, G., Jama, M., Miller, C., Millson, A., Lyon, E. (2004). Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane Regulator Gene. J. Mol. Diagn. 6: 264-270 [Abstract] [Full Text]  
• Dayangac, D., Erdem, H., Yilmaz, E., Sahin, A., Sohn, C., Ozguc, M., Dork, T. (2004). Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod 19: 1094-1100 [Abstract] [Full Text]  
• Wu, C.C., Hsieh-Li, H.M., Lin, Y.M., Chiang, H.S. (2004). Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. Hum Reprod 19: 250-253 [Abstract] [Full Text]  
• HUGHES, D., DÖRK, T., STUHRMANN, M., GRAHAM, C. (2001). Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland. J. Med. Genet. 38: 136-139 [Full Text]  
• Phillipson, G.T.M., Petrucco, O.M., Matthews, C.D. (2000). Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection. Hum Reprod 15: 431-435 [Abstract] [Full Text]  
• Dohle, G.R., Veeze, H.J., Overbeek, S.E., van den Ouweland, A.M.W., Halley, D.J.J., Weber, R.F.A., Niermeijer, M.F. (1999). The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data. Hum Reprod 14: 371-374 [Abstract] [Full Text]  
• Gelfi, C., Perego, M., Righetti, P. G., Cainarca, S., Firpo, S., Ferrari, M., Cremonesi, L. (1998). Rapid capillary zone electrophoresis in isoelectric histidine buffer: high resolution of the poly-T tract allelic variants in intron 8 of the CFTR gene. Clin. Chem. 44: 906-913 [Abstract] [Full Text]  
• Chillon, M., Casals, T., Mercier, B., Bassas, L., Lissens, W., Silber, S., Romey, M.-C., Ruiz-Romero, J., Verlingue, C., Claustres, M., Nunes, V., Ferec, C., Estivill, X. (1995). Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens. NEJM 332: 1475-1480 [Abstract] [Full Text]  
• Liu, J., Lissens, W., Silber, S. J., Devroey, P., Liebaers, I., Van Steirteghem, A. (1994). Birth After Preimplantation Diagnosis of the Cystic Fibrosis {bigtriangleup}F508 Mutation by Polymerase Chain Reaction in Human Embryos Resulting From Intracytoplasmic Sperm Injection With Epididymal Sperm. JAMA 272: 1858-1860 [Abstract]