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Cornelius Buck

Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis fur Mutationsanalysen bei angeborenem Enteropeptidasemangel

Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis fur Mutationsanalysen bei angeborenem Enteropeptidasemangel

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  • More about Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis fur Mutationsanalysen bei angeborenem Enteropeptidasemangel

Format: Paperback / softback
Length: 71 pages
Publication date: 02 January 2023
Publisher: Springer

Dargestellt wird zunächst das Krankheitsbild des angeborenen Enteropeptidase-Mangels (Morbus Hadorn). 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.


Dimension: 210 x 148 (mm)
ISBN-13: 9783658401665
Edition number: 1. Aufl. 2022

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