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

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 ti...

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Detalles Bibliográficos
Autores principales: Gao, Jinshuang, Li, Xiaole, Guo, Yaqing, Yu, Haiyang, Song, Liying, Fang, Yang, Yuan, Erfeng, Shi, Qianqian, Zhao, Dehua, Yuan, Enwu, Zhang, Linlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308354/
https://www.ncbi.nlm.nih.gov/pubmed/35869558
http://dx.doi.org/10.1186/s40246-022-00397-w

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