✦ LIBER ✦

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

✍ Scribed by Shahram Teimourian; Elham Zomorodian; Mohsen Badalzadeh; AliReza Pouya; Caroline Kannengiesser; Davood Mansouri; Taher Cheraghi; Nima Parvaneh

Book ID: 108675761
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 63 KB
Volume: 141
Category: Article
ISSN: 0007-1048
DOI: 10.1111/j.1365-2141.2008.07148.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Six different CYBA mutations including t

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease

✍ M. Y. Köker; K. Van Leeuwen; M. De Boer; F. Çelmeli; A. Metin; T. T. Özgür; İ. T 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 327 KB

Autosomal recessive chronic granulomatou

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase

✍ D. Noack; J. Rae; A.R. Cross; J. Muñoz; S. Salmen; J.A. Mendoza; N. Rossi; J.T. 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 236 KB

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.

Characterization of six novel mutations

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

✍ Marie José Stasia; Pierre Bordigoni; Daniel Floret; Jean Paul Brion; Cécile Bost 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 436 KB

A novel and unusual case of chronic gran

A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron

✍ Marie Stasia; Pierre Bordigoni; Cécile Martel; Françoise Morel 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 185 KB

Chronic granulomatous disease caused by

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase

✍ Dirk Roos; Martin de Boer; M. Yavuz Köker; Jan Dekker; Vinita Singh-Gupta; Ander 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 688 KB

## For the Immunogenetics Special Issue Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by defects in any of four genes encoding components of the leukocyte nicotinamide dinucleotide phosphate, reduced (NADPH) oxidase. One of these is the autosomal neutrophil cytosolic