FIRST CASE REPORT OF EX3DEL4765 MUTATION IN PAH GENE IN ASIAN POPULATION

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SOLTANI ZIBA; KARAMI FATEMEH; YASSAEE VAHIDREZA; HASHEMI GORJI FEYZOLLAH; TALEBZADEH MAHDIEH; MIRYOUNESI MOHAMMAD

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Journal: Iranian Red Crescent Medical Journal Year:2016 | Volume:18 | Issue:2 Page(s): 0-0

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Title

FIRST CASE REPORT OF EX3DEL4765 MUTATION IN PAH GENE IN ASIAN POPULATION

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Keywords

GENE DELETION

PHENYLALANINE HYDROXYLASE

PHENYLKETONURIA

Abstract

Introduction: PHENYLKETONURIA (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in PHENYLALANINE HYDROXYLASE (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).Case Presentation: We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU.Conclusions: This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.

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APA: Copy

SOLTANI, ZIBA, KARAMI, FATEMEH, YASSAEE, VAHIDREZA, HASHEMI GORJI, FEYZOLLAH, TALEBZADEH, MAHDIEH, & MIRYOUNESI, MOHAMMAD. (2016). FIRST CASE REPORT OF EX3DEL4765 MUTATION IN PAH GENE IN ASIAN POPULATION. IRANIAN RED CRESCENT MEDICAL JOURNAL (IRCMJ), 18(2), 0-0. SID. https://sid.ir/paper/293413/en

Vancouver: Copy

SOLTANI ZIBA, KARAMI FATEMEH, YASSAEE VAHIDREZA, HASHEMI GORJI FEYZOLLAH, TALEBZADEH MAHDIEH, MIRYOUNESI MOHAMMAD. FIRST CASE REPORT OF EX3DEL4765 MUTATION IN PAH GENE IN ASIAN POPULATION. IRANIAN RED CRESCENT MEDICAL JOURNAL (IRCMJ)[Internet]. 2016;18(2):0-0. Available from: https://sid.ir/paper/293413/en

IEEE: Copy

ZIBA SOLTANI, FATEMEH KARAMI, VAHIDREZA YASSAEE, FEYZOLLAH HASHEMI GORJI, MAHDIEH TALEBZADEH, and MOHAMMAD MIRYOUNESI, “FIRST CASE REPORT OF EX3DEL4765 MUTATION IN PAH GENE IN ASIAN POPULATION,” IRANIAN RED CRESCENT MEDICAL JOURNAL (IRCMJ), vol. 18, no. 2, pp. 0–0, 2016, [Online]. Available: https://sid.ir/paper/293413/en

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