Article ID Journal Published Year Pages File Type
8644424 Gene 2018 24 Pages PDF
Abstract
The c.2105C > T was found to be the most frequent mutation in this study. The results of this study revealed that most cases with splicing, frame shift and nonsense mutations experienced more severe clinical manifestations. Nonetheless, this should be confirmed by further studies on larger sample size.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
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