An Interactive Annotated World Bibliography of Printed and Digital Works in the History of Medicine and the Life Sciences from Circa 2000 BCE to 2024 by Fielding H. Garrison (1870-1935), Leslie T. Morton (1907-2004), and Jeremy M. Norman (1945- ) Traditionally Known as “Garrison-Morton”

16066 entries, 14153 authors and 1947 subjects. Updated: December 29, 2024

Permanent Link for Entry #15848

  • 13570

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.

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

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



Subjects: BIOLOGY › MOLECULAR BIOLOGY › Genomics, GENETICS / HEREDITY › GENETIC DISORDERS › Cystic Fibrosis
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