مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

MOLECULAR BASIS OF G6PD DEFICIENCY: CURRENT STATUS AND ITS PERSPECTIVE

Pages

  167-182

Abstract

GLUCOSE-6-PHOSPHATE DEHYDROGENASE is an essential enzyme to cell growth. Its deficiency of enzyme plays an important role in SENESCENCE and death signaling. Also, it is actually the most common clinically important enzyme defect, not only in hematology, but also among all human known diseases. Clinical consequences of enzyme deficiency are: neonatal hyperbilirubinemia, acute hemolytic anemia, and chronic hemolytic anemia. The enzyme gene spans 18 kb on the X chromosome (xq28) and contains 13 exons. Its promoter is embedded in a CpG island that is conserved from mice to humans. The development of a number of PCR-based methods for the detection of known mutations in GLUCOSE-6-PHOSPHATE DEHYDROGENASE has made it possible to detect enzyme deficiency and identify the specific mutation responsible with relative ease. We will discuss the mentioned clinical manifestations of GLUCOSE-6-PHOSPHATE DEHYDROGENASE deficiency, Genetics, biochemistry and pathophysiology of the enzyme in details using newer published data and present most of the studies in Iranian population.

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  • Cite

    APA: Copy

    NOURI DALOUEI, M.R., & DANESH PAZHOUH, MARYAM. (2008). MOLECULAR BASIS OF G6PD DEFICIENCY: CURRENT STATUS AND ITS PERSPECTIVE. ACTA MEDICA IRANICA, 46(3), 167-182. SID. https://sid.ir/paper/278118/en

    Vancouver: Copy

    NOURI DALOUEI M.R., DANESH PAZHOUH MARYAM. MOLECULAR BASIS OF G6PD DEFICIENCY: CURRENT STATUS AND ITS PERSPECTIVE. ACTA MEDICA IRANICA[Internet]. 2008;46(3):167-182. Available from: https://sid.ir/paper/278118/en

    IEEE: Copy

    M.R. NOURI DALOUEI, and MARYAM DANESH PAZHOUH, “MOLECULAR BASIS OF G6PD DEFICIENCY: CURRENT STATUS AND ITS PERSPECTIVE,” ACTA MEDICA IRANICA, vol. 46, no. 3, pp. 167–182, 2008, [Online]. Available: https://sid.ir/paper/278118/en

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