Investigation of exon 4 mutations of phenylalanine hydroxylase gene in phenylketonuria patients in Guilan Province using PCR-sequencing

Background: Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. Distribution pattern of mutations in the PAH gene are specific to each population. To date, no reports of phenylketo...

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Bibliographic Details
Main Authors: Neda Pourvatan, Zeinab Khazaei -Koohpar
Format: Article
Language:fas
Published: Kashan University of Medical Sciences and Health Services 2019-02-01
Series:Fiyz̤
Subjects:
Online Access:http://feyz.kaums.ac.ir/article-1-3666-en.html