IDENTIFICATION OF NEW MUTATION OF L194R IN PHENYLALANINE HYDROXYLASE GENE (PAH) IN IRANIAN POPULATION

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ZARE KARIZI SH.; HOSSEINI MAZINANI S.M.; JAVADI GH.; ZEINALI S.

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Paper Information

Journal: BIOLOGICAL SCIENCES (DANISH-I ZISTI-I IRAN) Year:2008 | Volume:3 | Issue:3 Page(s): 13-18

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Title

IDENTIFICATION OF NEW MUTATION OF L194R IN PHENYLALANINE HYDROXYLASE GENE (PAH) IN IRANIAN POPULATION

Author(s)

ZARE KARIZI SH. | HOSSEINI MAZINANI S.M. | JAVADI GH. | ZEINALI S. | Issue Writer Certificate

Keywords

PHENYLKETONURIAQ3

MUTATION PATTERNQ3

MUTATION SPECTRUMQ3

Abstract

PHENYLKETONURIA (PKU), the most common disorder of amino acid metabolism, is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. The incidence of PKU in Iran has been estimated at 1 in 3627 live births. To date, hundreds of mutations leading to PKU have been identified in the PAH gene. The spectrum of these mutations differs among different populations. In the present study, a novel mutation has been identified- during the mutational screening of the PAH gene in 150 Iranian families- in the human phenylalanine hydroxylase gene of a patient with classical PKU. It is a single base transversion of T to G at the second base of codon 194 in exon 6 of PAH gene. This mutation results in a Leu to Arg change in the catalytic domain of the protein.

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APA: Copy

ZARE KARIZI, SH., HOSSEINI MAZINANI, S.M., JAVADI, GH., & ZEINALI, S.. (2008). IDENTIFICATION OF NEW MUTATION OF L194R IN PHENYLALANINE HYDROXYLASE GENE (PAH) IN IRANIAN POPULATION. BIOLOGICAL SCIENCES (DANISH-I ZISTI-I IRAN), 3(3), 13-18. SID. https://sid.ir/paper/183714/en

Vancouver: Copy

ZARE KARIZI SH., HOSSEINI MAZINANI S.M., JAVADI GH., ZEINALI S.. IDENTIFICATION OF NEW MUTATION OF L194R IN PHENYLALANINE HYDROXYLASE GENE (PAH) IN IRANIAN POPULATION. BIOLOGICAL SCIENCES (DANISH-I ZISTI-I IRAN)[Internet]. 2008;3(3):13-18. Available from: https://sid.ir/paper/183714/en

IEEE: Copy

SH. ZARE KARIZI, S.M. HOSSEINI MAZINANI, GH. JAVADI, and S. ZEINALI, “IDENTIFICATION OF NEW MUTATION OF L194R IN PHENYLALANINE HYDROXYLASE GENE (PAH) IN IRANIAN POPULATION,” BIOLOGICAL SCIENCES (DANISH-I ZISTI-I IRAN), vol. 3, no. 3, pp. 13–18, 2008, [Online]. Available: https://sid.ir/paper/183714/en

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