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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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| Опубликовано в: : | Front Genet |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Frontiers Media S.A.
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6533879/ https://ncbi.nlm.nih.gov/pubmed/31156699 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00436 |
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