scholarly journals Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB

2020 ◽  
Author(s):  
M. Mollin ◽  
S. Beaumel ◽  
B. Vigne ◽  
J. Brault ◽  
N. Roux‐Buisson ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Genetic 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

scholarly journals Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

2013 ◽  
Vol 21 (10) ◽  
pp. 1079-1084 ◽  
Author(s):  
Marie J Stasia ◽  
Michèle Mollin ◽  
Cécile Martel ◽  
Véronique Satre ◽  
Charles Coutton ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Genetic Characterization ◽  
Granulomatous Disease

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

2013 ◽  
Vol 132 (5) ◽  
pp. 1156-1163.e5 ◽  
Author(s):  
Mustafa Yavuz Köker ◽  
Yıldız Camcıoğlu ◽  
Karin van Leeuwen ◽  
Sara Şebnem Kılıç ◽  
Işıl Barlan ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Genetic Characterization ◽  
Granulomatous Disease ◽  
Turkish Patients

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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