Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria
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DOI: 10.52547/ibj.3856
Abstract: Background: Phenylketonuria is a common inborn defect of amino acid metabolism in the world. This failure is caused by an autosomal recessive insufficiency of the hepatic enzyme PAH, which catalyzes the irreversible hydroxylation of phenylalanine… read more here.
Keywords: multiplex snapshot; pah gene; detection; snapshot minisequencing ... See more keywords