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...
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 |
Similar Items
-
Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report
by: Yoshimitsu Osawa, et al.
Published: (2020-09-01) -
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
by: M. Stuy, et al.
Published: (2015-09-01) -
ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model
by: Owen Daly, et al.
Published: (2023-06-01) -
Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
by: Laurent Leuger, et al.
Published: (2021-11-01) -
l-Citrulline Metabolism in Mice Augments CD4+ T Cell Proliferation and Cytokine Production In Vitro, and Accumulation in the Mycobacteria-Infected Lung
by: Shannon M. Lange, et al.
Published: (2017-11-01)