Article
Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.
PloS one - 1 Jan 2012
Arai Takashi, Oh-ishi Tsutomu, Yamamoto Hideaki, Nunoi Hiroyuki, Kamizono Junji, Uehara Masahiko, Kubota Takeo, Sakurai Takuya, Kizaki Takako, Ohno Hideki
Abstract excerpt
Mutations in genes for any of the six subunits of NADPH oxidase cause chronic granulomatous disease (CGD), but almost 2/3 of CGD cases are caused by mutations in the X-linked CYBB gene, also known as NAD (P) H oxidase 2. Approximately 260 patients with CGD have been reported in Japan, of whom 92 were shown to have mutations of the CYBB gene and 16 to have chromosomal deletions. However, there has been very little...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.