Open AccessTwo siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report
Author(s) -
Can Liu,
Ruihua Liu,
Guang-Fei Sun,
Lin Yang,
Qin-Liang Zheng,
Shan-Ying Wei,
Qingxia Kong,
Qiubo Li
Publication year - 2022
Publication title -
biomedical reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2022.1531
Subject(s) - ube3a , angelman syndrome , missense mutation , exon , genetics , neurodevelopmental disorder , biology , epilepsy , copy number variation , mutation , gene , ubiquitin ligase , medicine , ubiquitin , neuroscience , genome