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Human Genetics   Research Article

Cystic fibrosis in Uruguay

Authors: Gerardo Luzardo, Isabel Aznarez, Beatriz Crispino, Adriana Mimbacas, Liria Martínez, Rossana Poggio, Julian Zielenski, Lap-Chee Tsui and Horacio Cardoso

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 electroly.. Read More»

Genet. Mol. Res. 1(1):