In‐frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance

BACKGROUND: SMC5/6 complex plays a vital role in maintaining genome stability, yet the relationship with human diseases has not been described. METHODS: SMC5 variation was identified through whole‐exome sequencing (WES) and verified by Sanger sequencing. Immunoprecipitation, cytogenetic analysis, fl...

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Detalles Bibliográficos
Autores principales: Zhu, Wenjiao, Shi, Yuanping, Zhang, Changrun, Peng, Yajie, Wan, Yueyue, Xu, Yue, Liu, Xuemeng, Han, Bing, Zhao, Shuangxia, Kuang, Yanping, Song, Huaidong, Qiao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9832215/
https://www.ncbi.nlm.nih.gov/pubmed/36627765
http://dx.doi.org/10.1002/ctm2.1007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9832215/
https://www.ncbi.nlm.nih.gov/pubmed/36627765
http://dx.doi.org/10.1002/ctm2.1007

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