دورية أكاديمية
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
العنوان: | The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction |
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المؤلفون: | Scalet, Daniela, Sacchetto, Claudia, Bernardi, Francesco, Pinotti, Mirko, van de Graaf, Stan F. J., Balestra, DarioAff1 |
المصدر: | Journal of Human Genetics. 63(5):683-686 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 14345161 1435232X |
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DOI: | 10.1038/s10038-018-0427-x |