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

BACKGROUND: 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. METHODS: Gene‐panel...

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Detalles Bibliográficos
Autores principales: Qiu, Cong, Li, Chengyan, Tong, Xiaoyun, Dai, Luoyang, Liu, Wenda, Xie, Yulie, Zhang, Qimei, Yang, Guohua, Li, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549554/
https://www.ncbi.nlm.nih.gov/pubmed/32735081
http://dx.doi.org/10.1002/mgg3.1410

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