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Article

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

Human genomics - 22 Jul 2022

Gao Jinshuang, Li Xiaole, Guo Yaqing, Yu Haiyang, Song Liying, Fang Yang, Yuan Erfeng, Shi Qianqian, Zhao Dehua, Yuan Enwu, Zhang Linlin

Abstract excerpt

BACKGROUND: 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. METHODS: In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing. RESULTS: The detection...

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Identifiers

PMID: 35869558
DOI: 10.1186/s40246-022-00397-w
PMCID: PMC9308354

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