A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X‐linked intellectual disability type Nascimento-Reference-Cited by-同舟云学术

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X‐linked intellectual disability type Nascimento

Published:2019-09-30 Issue:11 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ma Dingyuan¹,Tan Jianxin¹,Zhou Jing¹,Zhang Jingjing¹,Cheng Jian¹,Luo Chunyu¹,Liu Gang¹,Wang Yuguo¹,Xu Zhengfeng¹^ORCID

Affiliation:

1. State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University Nanjing Maternity and Child Health Care Hospital Nanjing People's Republic of 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/mgg3.976

Reference20 articles.

1. An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression

2. Novel missense mutations in the ubiquitination-related geneUBE2Acause a recognizable X-linked mental retardation syndrome

3. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis