A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense-mediated mRNA degradation (NMD) simultaneously in a Chinese family.,Molecular Genetics & Genomic Medicine

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A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense-mediated mRNA degradation (NMD) simultaneously in a Chinese family.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-31 , DOI: 10.1002/mgg3.1410
Cong Qiu ₁ , Chengyan Li ₁ , Xiaoyun Tong ₁ , Luoyang Dai ₁ , Wenda Liu ₂ , Yulie Xie ₂ , Qimei Zhang ₃ , Guohua Yang ₂ , Tao Li ₁

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Tuberous sclerosis complex (TSC), belongs to autosomal dominant genetic disorder, which affects multiple organ systems in the body, including the skin, brain, lungs, kidneys, liver, and eyes. Mutations in TSC1 or TSC2 was proved to be associated with these conditions.

更新日期：2020-07-31

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