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

✍ Scribed by Marie José Stasia; Pierre Bordigoni; Daniel Floret; Jean Paul Brion; Cécile Bost-Bru; Gérard Michel; Pierre Gatel; Denis Durant-Vital; Marie Antoinette Voelckel; Xing Jun Li; Michèle Guillot; Elisabeth Maquet; Cécile Martel; Françoise Morel

Book ID
106134074
Publisher
Springer
Year
2004
Tongue
English
Weight
436 KB
Volume
116
Category
Article
ISSN
0340-6717

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Characterization of 11 novel mutations i
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)
✍ Bénédicte Gérard; Jamel El Benna; Françoise Alcain; Marie-Anne Gougerot-Pocidalo 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB

The most frequent form of chronic granulomatous disease (CGD) is caused by inactivation of the CYBB gene, which encodes the gp91-phox subunit of phagocyte NADPH oxidase. This defect prevents phagocytes from producing reactive oxygen species and thus from eradicating bacterial and fungal infections.

Identification and functional characteri
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
✍ Bernadette Boog; Alex Quach; Maurizio Costabile; Joanne Smart; Patrick Quinn; Ha 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB

Chronic granulomatous disease (CGD) is mainly caused by mutations in X-linked CYBB that encodes gp91. We have identified two novel mutations in CYBB resulting in the rare X91 + -CGD variant, c.1500T>G (p.Asp500Glu) in two male siblings and c.1463C>A (p.Ala488Asp) in an unrelated male. Zymosan and/or