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Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis fr Mutationsanalysen bei angeborenem En

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Product Details

Brand
Springer Nature
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N/A
Part Number
0
GTIN
9783658401665
Condition
New
Product Description

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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