Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran

BACKGROUND: Phenylketonuria (PKU) is an inborn error of amino acid metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). According to PAH database, exons 6 and 7 and their flanking introns of PAH gene contain the greatest number of mutant alleles. Therefore, as a preliminary...

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Hlavní autoři: Moradi, Keyvan, Alibakhshi, Reza, Ghadiri, Keyghobad, Khatami, Saeid Reza, Galehdari, Hamid
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2012
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3656516/
https://ncbi.nlm.nih.gov/pubmed/23716935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.107978
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