1. Boat, T.F., Welsh, M.J. & Beaudet, A.L. Cystic Fibrosis. In The Metabolic Basis of Inherited Disease (eds Scriver, C.L. et al.) 2649–2680 (New York, McGraw-Hill, 1989).
2. Kerem, E. et al. The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (ΔF508). New Eng. J. Med. 323, 1517–1522 (1990).
3. Hamosh, A. et al. Cystic fibrosis patients bearing the common missense mutation Gly→Asp at codon 551 and the ΔF508 are indistinguishable from ΔF508 homozygotes except for decreased risk of meconium ileus. Am. J. hum. Genet. 51, 245–250 (1992).
4. Kristidis, P. et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am. J. hum. Genet. 50, 1178–1184 (1992).
5. Hamosh, A. Preliminary results of the cystic fibrosis genotype-phenotype consortium study. Ped. Pulm. 8, 144–145 (1992).