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

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

Abstract 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 e...

Full description

Bibliographic Details
Main Authors: Chuan Zhang, Pei Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Human Genomics
Subjects:
PKU
PAH
Variant spectrumt
Genotype–phenotype correlation
Neonatal genetic screening
Online Access:https://doi.org/10.1186/s40246-023-00475-7

Internet

https://doi.org/10.1186/s40246-023-00475-7

Similar Items