Associated Papers
High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.
Zhu J et al.
Prenatal Diagnosis, 2024
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
[The research of combining high resolution melting with multiplex ligation-dependent probe amplification technology in the mutation scanning for PAH gene].
Ji CY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Bercovich D et al.
Journal of Human Genetics, 2008
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