Article

Characterization of PAH Gene Mutations and Analysis of Genotype-Phenotype Correlation in Patients with Phenylalanine Hydroxylase Deficiency from Fujian Province, Southeastern China

2021-11-30

Abstract excerpt

<title>Abstract</title> <p>Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inborn error of amino acid metabolism in China, has a complex phenotype with many variants and genotypes among different populations. Here, we analyzed the phenylalanine hydroxylase（ PAH ） gene mutations in a cohort of 93 PAHD patients from Fujian Province. And, the analysis of genotype and phenotype correlation in patien...

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Literature Corpus work: 7860140e-a748-54ea-a763-97a3a2f0d059
DOI: 10.21203/rs.3.rs-1096859/v1

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