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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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Persa |
| 出版事項: |
Kashan University of Medical Sciences and Health Services
2019-02-01
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| シリーズ: | Fiyz̤ |
| 主題: | |
| オンライン･アクセス: | http://feyz.kaums.ac.ir/article-1-3666-en.html |
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