The Molecular Genetics of Cystic Fibrosis: The Work of Francis Collins
Year: 2011
Type: article
Abstract: When Francis Collins enrolled at Yale University to earn a doctorate in physical chemistry, he considered the field of biology to be “chaotic and unpredictable.” However, a biochemistry course unexpectedly sparked his interest and led him to develop the positional cloning technique that he subsequently used to identify the disease-causing mutations for cystic fibrosis, neurofibromatosis, and Huntington disease. The JBC Classic reprinted here follows up on some of Collins' initial cystic fibrosis research, investigating the regulation of the cystic fibrosis transmembrane conductance regulator. Characterization of the Cystic Fibrosis Transmembrane Conductance Regulator Promoter Region (Koh, J. , Sferra, T. J., and Collins, F. S. (1993) J. Biol. Chem. 268, 15912–15921)
Source: Journal of Biological Chemistry
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,430
OpenAlex ID: W1976508113