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

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

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

by Cornelius Bück (Author)

 

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. 

Product Details

  • Publisher: Springer Fachmedien Wiesbaden; January 1, 2023
  • Language: German
  • ISBN: 9783658401665
  • ISBN: 9783658401672

File Size : 10.9 MB

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