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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...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| 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 |