A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease

Authors:	de Boer Martin Hartl Dominik Wintergerst Uwe Belohradsky Bernd H Roos Dirk

Affiliation:	Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands.

Abstract:

Keywords:	Chronic granulomatous disease (CGD) p22-phox deficiency CYBA Splice site mutation Cryptic splice site A22⁰ CGD
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