Open AccessChild with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report
Author(s) -
Xing-Chen Wang,
Ting Wang,
Rui-Han Liu,
Yan Jiang,
Dandan Chen,
Xinyu Wang,
Qingxia Kong
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i30.11082
Subject(s) - asymmetric digital subscriber line , medicine , missense mutation , mutation , compound heterozygosity , genetics , biology , gene , digital subscriber line , telecommunications , computer science