Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay

ObjectiveArgininosuccinate 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.MethodsThe peripheral blood samples were collected from the family members, and ge...

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Bibliographic Details
Main Authors: Yanyun Wang, Yun Sun, Ming Liu, Xiaojuan Zhang, Tao Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00436/full