A novel missense mutation in the UBE2A gene causes intellectual disability in the large X‐linked family
Author:
Affiliation:
1. Department of Medical Genetics Ankara City Hospital Ankara Turkey
2. Department of Medical Genetics Ankara Yıldırım Beyazit University Ankara Turkey
3. Department of Medical Biology Kocaeli University Kocaeli Turkey
Publisher
Wiley
Subject
Genetics (clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3307
Reference24 articles.
1. XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
2. Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
3. UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome
4. An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression
5. 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
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review;Frontiers in Pediatrics;2022-07-22
2. A novel UBE2A splice site variant causing intellectual disability type Nascimento;Clinical Case Reports;2022-07
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