Vol 6: Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease.Reportar como inadecuado



 Vol 6: Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease.


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This article is from Allergy, Asthma & Immunology Research, volume 6.AbstractChronic granulomatous disease CGD is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate NADPH oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133AG paAsp378Gly missense mutation, in the CYBB gene.



Autor: Song, Sang-Mi; Park, Mi-Ran; Kim, Do-Soo; Kim, Jihyun; Kim, Yae-Jean; Ki, Chang-Seok; Ahn, Kangmo

Fuente: https://archive.org/



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