Cystic fibrosis in Uruguay

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%), an...

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Veröffentlicht in:	Genetics and molecular research 2002-03, Vol.1 (1), p.32-38
Hauptverfasser:	Luzardo, Gerardo, Aznarez, Isabel, Crispino, Beatriz, Mimbacas, Adriana, Martínez, Liria, Poggio, Rossana, Zielenski, Julian, Tsui, Lap-Chee, Cardoso, Horacio
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics DNA Mutational Analysis Genotype Humans Mutation - genetics Polymorphism, Genetic Uruguay
Online-Zugang:	Volltext
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