The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD

BACKGROUND: Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression failure respectively and NADPH oxidase deficiency. Previous study showed tha...

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Detalles Bibliográficos
Autores principales: Sun, Jinqiao, Wen, Min, Wang, Ying, Liu, Danru, Ying, Wenjing, Wang, Xiaochuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683331/
https://www.ncbi.nlm.nih.gov/pubmed/29132304
http://dx.doi.org/10.1186/s12881-017-0492-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683331/
https://www.ncbi.nlm.nih.gov/pubmed/29132304
http://dx.doi.org/10.1186/s12881-017-0492-6

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