Article
Cystic fibrosis 3849+10kb C > T mutation associated with severe pulmonary disease and male fertility.
American journal of respiratory and critical care medicine - 1 Feb 1996
Dreyfus D H, Bethel R, Gelfand E W
Abstract excerpt
A 40-yr-old Hispanic man presented to NJCIRM with end-stage lung disease. Evaluation of this patient 10 yr earlier noted bronchiectasis, normal sweat electrolytes, pancreatic sufficiency, delayed progression of pulmonary disease, and a sperm biopsy consistent with fertility. At the time of admission bronchiectasis was extensive. DNA testing demonstrated homozygosity for the 3849+10kb C > T cystic fibrosis (CF)...
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