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”

16061 entries, 14144 authors and 1947 subjects. Updated: December 10, 2024

Permanent Link for Entry #15847

  • 13569

Identification of the cystic fibrosis gene: Cloning and characterization of complimentary DNA.

Science, 245, 1066-1072, 1989.

The authors first published a ‘map’ of the cystic fibrosis (CF) gene and on p. 1071, they published an illustration/schematic model of the predicted CFTR (cystic fibrosis transmembrane conductance
regulator). They first described a deletion mutation DeltaF508  (ΔF508) that was detected in both CF clones, which would result in a ‘loss’ of a phenyalanine residue at position 508 in the CF polypeptide.

Order of authorship in the original publication: Riordan, Rommens, et al, Collins, 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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