CYBB GENE MUTATION DETECTION IN AN IRANIAN PATIENT WITH CHRONIC GRANULOMATOUS DISEASE

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REZVANI Z.; MOHAMMADZADEH I.; POURPAK Z.; MOEIN M.; TEYMOURIAN SH.

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Journal Paper

Paper Information

Journal: Iranian Journal of Allergy, Asthma and Immunology Year:2005 | Volume:4 | Issue:2 Page(s): 103-106

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Title

CYBB GENE MUTATION DETECTION IN AN IRANIAN PATIENT WITH CHRONIC GRANULOMATOUS DISEASE

Author(s)

Keywords

CHRONIC GLAUCOMATOUS DISEASE

CYBB PROTEIN

HUMAN

GENE

MUTATION

Abstract

In this study, we report a MUTATION in CYBB GENE in a patient with X-CGD (diagnosed on the base of family history, NDT test, DHR 123 assay). MUTATION in CYBB GENE was detected using SSCP analysis (single-strand conformation polymorphism) followed by sequencing. During screening for MUTATIONs in the CYBB GENE we observed 880 C--> T in exon 8. This MUTATION resulted in 290 Arg--> Stop. We also observed a change (-270 C--> A) in the promoter region which needs further investigation. We would like to pursue this study by analyzing more X-CGD patients to find out the CYBB MUTATION spectrum in Iranian patients.

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APA: Copy

REZVANI, Z., MOHAMMADZADEH, I., POURPAK, Z., MOEIN, M., & TEYMOURIAN, SH.. (2005). CYBB GENE MUTATION DETECTION IN AN IRANIAN PATIENT WITH CHRONIC GRANULOMATOUS DISEASE. IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), 4(2), 103-106. SID. https://sid.ir/paper/291090/en

Vancouver: Copy

REZVANI Z., MOHAMMADZADEH I., POURPAK Z., MOEIN M., TEYMOURIAN SH.. CYBB GENE MUTATION DETECTION IN AN IRANIAN PATIENT WITH CHRONIC GRANULOMATOUS DISEASE. IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI)[Internet]. 2005;4(2):103-106. Available from: https://sid.ir/paper/291090/en

IEEE: Copy

Z. REZVANI, I. MOHAMMADZADEH, Z. POURPAK, M. MOEIN, and SH. TEYMOURIAN, “CYBB GENE MUTATION DETECTION IN AN IRANIAN PATIENT WITH CHRONIC GRANULOMATOUS DISEASE,” IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), vol. 4, no. 2, pp. 103–106, 2005, [Online]. Available: https://sid.ir/paper/291090/en

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