Identification of the cystic fibrosis gene: Genetic analysis.

The authors demonstrated that about 70% of the crucial mutation in cystic fibrosis (CF) patients corresponds to the specific deletion of 3 base pairs, which results in the loss of a phenylalanine residue at A.A. position 508. This discovery provided a target for pharmacologists, molecular biologists and molecular geneticists to develop a biologic drug for the benefit of the majority of those afflicted with CF.

Order of authorship in the original publication: Kerem, Rommens, et al, Tsui.

(Thanks to Juan Weiss for this reference and its interpretation.)