Ontology highlight
ABSTRACT:
SUBMITTER: Wang Y
PROVIDER: S-EPMC6533879 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Wang Yanyun Y Sun Yun Y Liu Ming M Zhang Xiaojuan X Jiang Tao T
Frontiers in genetics 20190517
<h4>Objective</h4>Argininosuccinate lyase (ASL) gene mutations account for argininosuccinic aciduria (ASA). This study aimed to design a minigene construct of ASL gene in order to investigate the impact of variants on splicing.<h4>Methods</h4>The peripheral blood samples were collected from the family members, and genomic DNA was extracted for gene diagnosis using the total exon sequencing method. The novel mutation gene was cloned into pEGFP-C1 vector, and the pathogenicity of the mutation was ...[more]