Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91phox resulting in the rare X91+ variant of chronic granulomatous disease

2012 ◽  
Vol 33 (3) ◽  
pp. 471-475 ◽  
Author(s):  
Bernadette Boog ◽  
Alex Quach ◽  
Maurizio Costabile ◽  
Joanne Smart ◽  
Patrick Quinn ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Functional Characterization ◽  
Granulomatous Disease ◽  
Novel Mutations

scholarly journals Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease

2008 ◽  
Vol 141 (6) ◽  
pp. 848-851 ◽  
Author(s):  
Shahram Teimourian ◽  
Elham Zomorodian ◽  
Mohsen Badalzadeh ◽  
AliReza Pouya ◽  
Caroline Kannengiesser ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Autosomal Recessive ◽  
Granulomatous Disease ◽  
Novel Mutations

Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene

2006 ◽  
Vol 34 (4) ◽  
pp. 528-535 ◽  
Author(s):  
Heiko von Goessel ◽  
Johann Peter Hossle ◽  
Reinhard Seger ◽  
Tayfun Gungor
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Novel Mutations ◽  
Cybb Gene

scholarly journals Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)

2001 ◽  
Vol 18 (2) ◽  
pp. 163-163 ◽  
Author(s):  
Bénédicte Gérard ◽  
Jamel El Benna ◽  
Françoise Alcain ◽  
Marie-Anne Gougerot-Pocidalo ◽  
Bernard Grandchamp ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Novel Mutations ◽  
Cybb Gene

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease

2004 ◽  
Vol 116 (1-2) ◽  
pp. 72-82 ◽  
Author(s):  
Marie Jos� Stasia ◽  
Pierre Bordigoni ◽  
Daniel Floret ◽  
Jean Paul Brion ◽  
C�cile Bost-Bru ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Novel Mutations ◽  
Cybb Gene

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease

2018 ◽  
Vol 40 (5) ◽  
pp. e268-e272 ◽  
Author(s):  
Shahram Teimourian ◽  
Faezeh Sazgara ◽  
Martin de Boer ◽  
Karin van Leeuwen ◽  
Dirk Roos ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Cybb Gene ◽  
New Mutations
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