Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China

BACKGROUND: Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inherited disorder of amino acid metabolism in China. Its complex phenotype includes many variants and genotypes among different populations. METHODS AND RESULTS: In this study, we analyzed the phenylalanine hydroxylase ge...

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Detalles Bibliográficos
Autores principales: Zhou, Jinfu, Zeng, Yinglin, Qiu, Xiaolong, Lin, Qingying, Chen, Weifeng, Luo, Jinying, Xu, Liangpu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618490/
https://www.ncbi.nlm.nih.gov/pubmed/36104584
http://dx.doi.org/10.1007/s11033-022-07579-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618490/
https://www.ncbi.nlm.nih.gov/pubmed/36104584
http://dx.doi.org/10.1007/s11033-022-07579-8

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