Ontology highlight
ABSTRACT:
SUBMITTER: Qian Z
PROVIDER: S-EPMC6503029 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Qian Zhiling Z Cui Xiongwei X Huang Yunli Y Liu Yanmin Y Li Ning N Zheng Sujun S Jiang Jun J Cui Shichang S
Molecular genetics & genomic medicine 20190318 5
<h4>Background</h4>Wilson's disease (WD) is an autosomal recessive genetic disease caused by mutations in ATP7B and characterized by copper metabolism disorders.<h4>Methods</h4>Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method. Fourteen probands with WD and 12 family members participated in this study. The ATP7B gene was analyzed by direct sequencing.<h4>Results</h4>Twenty-nine different variants (27 substitutions, 1 duplication, 1 deletion) we ...[more]