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

OBJECTIVE: 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. METHODS: The peripheral blood samples were collected from the family members, a...

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Detalles Bibliográficos
Autores principales: Wang, Yanyun, Sun, Yun, Liu, Ming, Zhang, Xiaojuan, Jiang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533879/
https://www.ncbi.nlm.nih.gov/pubmed/31156699
http://dx.doi.org/10.3389/fgene.2019.00436

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533879/
https://www.ncbi.nlm.nih.gov/pubmed/31156699
http://dx.doi.org/10.3389/fgene.2019.00436

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