Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

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 wer...

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Detalles Bibliográficos
Autores principales: Arai, Takashi, Oh-ishi, Tsutomu, Yamamoto, Hideaki, Nunoi, Hiroyuki, Kamizono, Junji, Uehara, Masahiko, Kubota, Takeo, Sakurai, Takuya, Kizaki, Takako, Ohno, Hideki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287986/
https://www.ncbi.nlm.nih.gov/pubmed/22383943
http://dx.doi.org/10.1371/journal.pone.0027782

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287986/
https://www.ncbi.nlm.nih.gov/pubmed/22383943
http://dx.doi.org/10.1371/journal.pone.0027782

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