Genetic Analysis of 10 Unrelated Korean Families with p22-phox-deficient Chronic Granulomatous Disease: An Unusually Identical Mutation of the CYBA Gene on Jeju Island, Korea

Chronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive oxygen species as a result of defects in NADPH oxidase. Considering that CGD g...

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Detalles Bibliográficos
Autores principales: Kim, Young Mee, Park, Ji Eun, Kim, Jin Young, Lim, Hee Kyung, Nam, Jae Kook, Cho, Moonjae, Shin, Kyung-Sue
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775850/
https://www.ncbi.nlm.nih.gov/pubmed/19949658
http://dx.doi.org/10.3346/jkms.2009.24.6.1045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775850/
https://www.ncbi.nlm.nih.gov/pubmed/19949658
http://dx.doi.org/10.3346/jkms.2009.24.6.1045

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