KEREM, Batsheva
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Identification of the cystic fibrosis gene: Genetic analysis.Science, 245, 1073-1080, 1989.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. Subjects: BIOLOGY › MOLECULAR BIOLOGY › Genomics, GENETICS / HEREDITY › GENETIC DISORDERS › Cystic Fibrosis |