Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family

Telomere maintenance 2 (TELO2)–interacting protein 2 (TTI2) interacts with TTI1 and TELO2 to form the Triple T complex, which is required for various cellular processes, including the double-strand DNA break response, nonsense-mediated mRNA decay, and telomerase assembly. Herein, we identified compo...

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Detalles Bibliográficos
Autores principales: Wang, Rongrong, Han, Shirui, Liu, Hongyan, Khan, Amjad, Xiaerbati, Habulieti, Yu, Xue, Huang, Jia, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830114/
https://www.ncbi.nlm.nih.gov/pubmed/31737043
http://dx.doi.org/10.3389/fgene.2019.01060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830114/
https://www.ncbi.nlm.nih.gov/pubmed/31737043
http://dx.doi.org/10.3389/fgene.2019.01060

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