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Iranian Journal of Public Health، جلد ۴۶، شماره ۴، صفحات ۵۶۰-۵۶۴
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عنوان انگلیسی Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report
چکیده انگلیسی مقاله 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.    
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله | Masoumeh RAZIPOUR
Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Daniz KOOSHAVAR
Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Elaheh ALAVINEJAD
Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Seyede Zahra SAJEDI
Dept. of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
 Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran


| Neda MOHAJER
Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Aria SETOODEH
Dept. of Endocrinology, Children’s Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran


| Saeed TALEBI
Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Mohammad KERAMATIPOUR
Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی http://ijph.tums.ac.ir/index.php/ijph/article/view/9767
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/86/article-86-1354319.pdf
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