Article
Cystic fibrosis in Uruguay.
Genetics and molecular research : GMR - 31 Mar 2002
Luzardo Gerardo, Aznarez Isabel, Crispino Beatriz, Mimbacas Adriana, Martínez Liria, Poggio Rossana, Zielenski Julian, Tsui Lap-Chee, Cardoso Horacio
Abstract excerpt
We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively...
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