Neue Ergebnisse zur Mutationscharakterisierung bei Hämophilie A und B
作者： F. H. Herrmann , W. Schröder , K. Wulff , M. Wehnert
DOI: 10.1007/978-3-642-79648-7_31
关键词:
摘要: Die Charakterisierung der zur Hamophilie fuhrenden Mutationen in den zugrundeliegenden Genen (Faktor VIII-Gen, Faktor IX-Gen) ermoglicht betroffenen Familien eine Konduktorinnen- und Pranataldiagnostik mit praktisch 100%iger Aussagesicherheit, indem direkt die Weitergabe (Segregation) des durch Mutation veranderten Gens entsprechenden Familie verfolgt werden kann (direkte genomische Diagnostik). Neue Ergebnisse von bei A B Patienten summarisch vorgestellt.
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