Article

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing

2022-03-31

Abstract excerpt

<h4>Background: </h4> Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite genotype. <h4>Methods: </h4>: In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing. <h...

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Literature Corpus work: c0f8c605-874a-5d6e-b431-7f06d2e36f55
DOI: 10.21203/rs.3.rs-1495904/v1

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