Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis complex. CASE PRESENTATION: We describe the clin...

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Detalles Bibliográficos
Autores principales: Zhang, Ruixiao, Wang, Jianhong, Wang, Qing, Han, Yue, Liu, Xuejun, Bottillo, Irene, Lang, Yanhua, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149227/
https://www.ncbi.nlm.nih.gov/pubmed/30236073
http://dx.doi.org/10.1186/s12881-018-0686-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149227/
https://www.ncbi.nlm.nih.gov/pubmed/30236073
http://dx.doi.org/10.1186/s12881-018-0686-6

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