Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Kerem B., Rommens J. M., Buchanan J. A., Markiewicz D., Cox T. K., Chakravarti A., Buchwald M., Tsui L. C. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. doi: 10.1126/science.2570460. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Meschede D., Eigel A., Horst J., Nieschlag E. 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. Am J Hum Genet. 1993 Jul;53(1):292–293. [PMC free article] [PubMed] [Google Scholar]
- Tsui L. C. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat. 1992;1(3):197–203. doi: 10.1002/humu.1380010304. [DOI] [PubMed] [Google Scholar]