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

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

Abstract Background X‐linked intellectual disability type Nascimento (XIDTN), caused by mutations in ubiquitin‐conjugating enzyme E2A (UBE2A) gene, is characterized by moderate to severe intellectual disability, impaired speech, urogenital anomalies, skin abnormalities, and dysmorphic facial feature...

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Bibliographic Details
Main Authors: Dingyuan Ma, Jianxin Tan, Jing Zhou, Jingjing Zhang, Jian Cheng, Chunyu Luo, Gang Liu, Yuguo Wang, Zhengfeng Xu
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
splicing mutation
UBE2A
whole exome sequencing
X‐linked intellectual disability
Online Access:https://doi.org/10.1002/mgg3.976

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