Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
letter
. 1993 Jul;53(1):292–293.

Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens.

D Meschede, A Eigel, J Horst, E Nieschlag
PMCID: PMC1682253  PMID: 7686336

Full text

PDF
292

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anguiano A., Oates R. D., Amos J. A., Dean M., Gerrard B., Stewart C., Maher T. A., White M. B., Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA. 1992 Apr 1;267(13):1794–1797. [PubMed] [Google Scholar]
  2. Kerem B. S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., Kennedy D., Riordan J. R., Collins F. S., Rommens J. M. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447–8451. doi: 10.1073/pnas.87.21.8447. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Kobayashi K., Knowles M. R., Boucher R. C., O'Brien W. E., Beaudet A. L. Benign missense variations in the cystic fibrosis gene. Am J Hum Genet. 1990 Oct;47(4):611–615. [PMC free article] [PubMed] [Google Scholar]
  4. Macek M., Jr, Ladanyi L., Bürger J., Reis A. Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation. Am J Hum Genet. 1992 Nov;51(5):1173–1174. [PMC free article] [PubMed] [Google Scholar]
  5. Silber S. J., Ord T., Balmaceda J., Patrizio P., Asch R. H. Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm. N Engl J Med. 1990 Dec 27;323(26):1788–1792. doi: 10.1056/NEJM199012273232602. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES