Open AccessMolecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families
Author(s) -
Xiao Yang,
Qing Gu,
Haiyan Wu,
Songtao Wang,
Pei Pei,
Zheng Xing,
Hong Pan,
Yue Ma
Publication year - 2021
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000001469
Subject(s) - phenylalanine hydroxylase , proband , hyperphenylalaninemia , medicine , phenylketonurias , prenatal diagnosis , genetic counseling , missense mutation , phenylalanine , pediatrics , genetics , tetrahydrobiopterin , gene , biology , pregnancy , mutation , fetus , amino acid , nitric oxide synthase , nitric oxide