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-Reference-Cited by-同舟云学术

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

Published:2020-07-31 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Qiu Cong¹,Li Chengyan¹,Tong Xiaoyun¹,Dai Luoyang¹,Liu Wenda²,Xie Yulie²,Zhang Qimei³,Yang Guohua²^ORCID,Li Tao¹

Affiliation:

1. Department of Neurology Renmin Hospital of Wuhan University Wuhan Hubei China

2. Demonstration Center for Experimental Basic Medicine Education of Wuhan University Wuhan Hubei China

3. Central hospital of Yichang City The First Clinical Medical College of Three Gorges University Yichang Hubei China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1410

Reference22 articles.

1. The single-step method of RNA isolation by acid guanidinium thiocyanate–phenol–chloroform extraction: twenty-something years on

2. Biallelic TSC gene inactivation in tuberous sclerosis complex

3. Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

4. TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1

5. Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes

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