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

Abstract 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 t...

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Автори:	Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao
Формат:	Artigo
Мова:	Inglês
Опубліковано:	BMC 2018-09-01
Серія:	BMC Medical Genetics
Предмети:	Tuberous sclerosis complex TSC1 TSC2 Novel mutation Aberrant splicing
Онлайн доступ:	http://link.springer.com/article/10.1186/s12881-018-0686-6
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