Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis für Mutationsanalysen bei angeborenem Enteropeptidasemangel (EPUB)

The clinical picture of congenital enteropeptidase deficiency (Hadorn’s disease) is presented first. It is characterized by a failure to thrive and grow. Subsequently, the gene structure elucidation by means of PCR and sequencing is described. Finally, the work of colleagues who, using this method, were able to find gene mutations in affected patients for the first time is discussed.