The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

BACKGROUND: Phenylketonuria (PKU) is a common, congenital, autosomal recessive, metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants. METHODS: 967 PKU patients from Gansu, China were genotyped by Sanger sequencing, multiplex ligation-dependent probe amplification, and whole exome se...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Chuan, Zhang, Pei, Yan, Yousheng, Zhou, Bingbo, Wang, Yupei, Tian, Xinyuan, Hao, Shengju, Ma, Panpan, Zheng, Lei, Zhang, Qinghua, Hui, Ling, Wang, Yan, Cao, Zongfu, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Database
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127316/
https://www.ncbi.nlm.nih.gov/pubmed/37098607
http://dx.doi.org/10.1186/s40246-023-00475-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127316/
https://www.ncbi.nlm.nih.gov/pubmed/37098607
http://dx.doi.org/10.1186/s40246-023-00475-7

Ejemplares similares