
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency
Author(s) -
Yulian Fang,
Chunquan Cai,
Chao Wang,
Bei Sun,
Xinjie Zhang,
Wenxuan Fan,
Wenchao Hu,
Yan Meng,
ShengXiang Lin,
Chunhua Zhang,
Yuqin Zhang,
Jianbo Shu
Publication year - 2019
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000014021
Subject(s) - missense mutation , medicine , mutation , gene mutation , genetics , polymerase chain reaction , gene , biology