A NOVEL MUTATION IN THE BCKDHB GENE CAUSES IN AN IRANIAN CHILD CLASSIC MAPLE SYRUP URINE DISEASE

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SAFDARIAN ESMAT

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

Journal Paper

Paper Information

Journal: Zahedan Journal of Research in Medical Sciences Year:2016 | Volume:18 | Issue:10 Page(s): 0-0

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Information Journal Paper

Title

A NOVEL MUTATION IN THE BCKDHB GENE CAUSES IN AN IRANIAN CHILD CLASSIC MAPLE SYRUP URINE DISEASE

Author(s)

SAFDARIAN ESMAT | Issue Writer Certificate

Keywords

MAPLE SYRUP URINE DISEASE

INBORN METABOLIC DISORDER

AMINO ACID METABOLISM

Abstract

Background: MAPLE SYRUP URINE DISEASE (MSUD) is a rare metabolic disorder caused by deficiency in branched chain alpha-keto acid dehydrogenase complex (BCKD).Methods: In this study, the coding regions and flanking splice sites of the BCKDHA, BCKDHB, DBT and DLD genes have been sequenced in an Iranian 3 years old girl.Results: A novel homozygousmutation (p.Glu330Lys) wasdetected in the BCKDHBgene. In silico analysis showed significant change in the 3-D protein Structure.Conclusions: This alteration probably affects the structure and function of the E1 subunit of BCKD complex.

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APA: Copy

SAFDARIAN, ESMAT. (2016). A NOVEL MUTATION IN THE BCKDHB GENE CAUSES IN AN IRANIAN CHILD CLASSIC MAPLE SYRUP URINE DISEASE. ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), 18(10), 0-0. SID. https://sid.ir/paper/692541/en

Vancouver: Copy

SAFDARIAN ESMAT. A NOVEL MUTATION IN THE BCKDHB GENE CAUSES IN AN IRANIAN CHILD CLASSIC MAPLE SYRUP URINE DISEASE. ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH)[Internet]. 2016;18(10):0-0. Available from: https://sid.ir/paper/692541/en

IEEE: Copy

ESMAT SAFDARIAN, “A NOVEL MUTATION IN THE BCKDHB GENE CAUSES IN AN IRANIAN CHILD CLASSIC MAPLE SYRUP URINE DISEASE,” ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), vol. 18, no. 10, pp. 0–0, 2016, [Online]. Available: https://sid.ir/paper/692541/en

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