2022
DOI: 10.1515/jpem-2021-0336
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Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria

Abstract: Objectives Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism. It is mainly caused by a deficiency in phenylalanine hydroxylase (PAH) and frequently diagnosed with Sanger sequencing. To some extent, allelic dropout can explain the inconsistency in genotype and phenotype. Methods Three families were evaluated through DNA sequence analysis, multiplex ligation-dependent probe amplifica… Show more

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