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Razipour M, Kooshavar D, Alavinejad E, et al. Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report. Iran J Public Health. 2017;46(4):560-564
Razipour, M., Kooshavar, D., Alavinejad, E., Sajedi, S. Z., Mohajer, N., Setoodeh, A., Talebi, S., & Keramatipour, M. (2017). Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report. Iranian journal of public health, 46(4), 560-564.
Razipour, Masoumeh, et al. "Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report." Iranian journal of public health vol. 46,4 (2017): 560-564.
Razipour M, Kooshavar D, Alavinejad E, Sajedi SZ, Mohajer N, Setoodeh A, Talebi S, Keramatipour M. Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report. Iran J Public Health. 2017 Apr;46(4):560-564. PMID: 28540274; PMCID: PMC5439047.
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Iran J Public Health. 2017 Apr;46(4):560-564.

Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.

Iranian journal of public health

Masoumeh Razipour, Daniz Kooshavar, Elaheh Alavinejad, Seyede Zahra Sajedi, Neda Mohajer, Aria Setoodeh, Saeed Talebi, Mohammad Keramatipour

Affiliations

  1. Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  2. Dept. of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
  3. Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
  4. Dept. of Endocrinology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

PMID: 28540274 PMCID: PMC5439047

Abstract

Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene.

Keywords: Iran; Mutation analysis; Phenylalanine hydroxylase; Phenylketonurias

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