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

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 features. METHO...

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Detalles Bibliográficos
Autores principales: Ma, Dingyuan, Tan, Jianxin, Zhou, Jing, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825863/
https://www.ncbi.nlm.nih.gov/pubmed/31566921
http://dx.doi.org/10.1002/mgg3.976

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