Identification of a splice site mutation (2789 + 5 G>A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

W. Edward Highsmith, Lauranell H. Burch, Zhaoqing Zhou, John C. Olsen, Theresa V. Strong, Terry Smith, Kenneth J. Friedman, Lawrence M. Silverman, Richard C. Boucher, Francis S. Collins, Michael R. Knowles

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Medicine & Life Sciences