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Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis fr Mutationsanalysen bei angeborenem En
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Product Details
Dargestellt wird zunchst das Krankheitsbild des angeborenen Enteropeptidase-Mangels (Morbus Hadorn). Es zeichnet sich durch eine Gedeih- und Wachstumsstrung aus. Anschliessend wird die Genstrukturaufklrung 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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