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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China

Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in a cohort of 420 patients from neonat...

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Detalles Bibliográficos
Autores principales:	Chen, Ting, Xu, Weize, Wu, Dingwen, Han, Jiamin, Zhu, Ling, Tong, Fan, Yang, Rulai, Zhao, Zhengyan, Jiang, Pingping, Shu, Qiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244417/ https://www.ncbi.nlm.nih.gov/pubmed/30459323 http://dx.doi.org/10.1038/s41598-018-35373-9

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