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[Direct genetic diagnosis in cystic fibrosis]
J Reiss1, M Schlösser, M Wagner
1Institut für Humangenetik, Universitätskliniken Göttingen.
Abstract:
The recent cloning of the cystic fibrosis gene and the simultaneous identification of the predominant mutation enabled direct gene diagnosis in the majority of all CF families. We demonstrate the superiority of now available direct genotyping in five individual cases.