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

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Information Journal Paper

Title

D28G MUTATION IN CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION

Pages

  514-518

Keywords

CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION (CGGM) 

Abstract

 Background: Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder of the intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, failure to thrive, and early death.Methods: In this study, we analyzed D28G mutation in 16 family members of a patient with typical presentation of congenital glucose-galactose malabsorption with polymerase chain reaction-Restriction Fragment Length Polymorphism method.Results: Nine members of this family were heterozygous for D28G mutation.Conclusion: To the best of our knowledge this is the first report of D28G mutation in Iran.Moreover, this simple typical PCR-Restriction Fragment Length Polymorphism method, allows immediate identification of D28G mutation.

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    • Cite

    APA: Copy

    KIANIFAR, H.R., TALEBI, S., TAVAKOL AFSHARI, J., BOROUK, A., DAVACHI, B., & ESMAILI, M.. (2007). D28G MUTATION IN CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION. ARCHIVES OF IRANIAN MEDICINE, 10(4), 514-518. SID. https://sid.ir/paper/280256/en

    Vancouver: Copy

    KIANIFAR H.R., TALEBI S., TAVAKOL AFSHARI J., BOROUK A., DAVACHI B., ESMAILI M.. D28G MUTATION IN CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2007;10(4):514-518. Available from: https://sid.ir/paper/280256/en

    IEEE: Copy

    H.R. KIANIFAR, S. TALEBI, J. TAVAKOL AFSHARI, A. BOROUK, B. DAVACHI, and M. ESMAILI, “D28G MUTATION IN CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION,” ARCHIVES OF IRANIAN MEDICINE, vol. 10, no. 4, pp. 514–518, 2007, [Online]. Available: https://sid.ir/paper/280256/en

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