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Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis für Mutationsanalysen bei angeborenem Enteropeptidasemangel
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Barnes and Noble
Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis für Mutationsanalysen bei angeborenem Enteropeptidasemangel
Current price: $69.99
Barnes and Noble
Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis für Mutationsanalysen bei angeborenem Enteropeptidasemangel
Current price: $69.99
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Size: Paperback
*Product Information may vary - to confirm product availability, pricing, and additional information please contact Barnes and Noble
Dargestellt wird zunächst das Krankheitsbild des angeborenen Enteropeptidase-Mangels (Morbus Hadorn). Es zeichnet sich durch eine Gedeih- und Wachstumsstörung aus. Anschliessend wird die Genstrukturaufklärung mittels PCR und Sequenzierung beschrieben. Zuletzt wird auf Arbeiten von Kollegen eingegangen, die mittels dieser Methode erstmals Genmutationen bei betroffenen Patienten finden konnten.
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