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ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality
The Arp2/3 complex drives the formation of branched actin networks that are essential for many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded by two paralogous genes (ARPC5 and ARPC5L) with 67% identity. Through whole-exome sequencing, we identified a biallelic ARP...
Autores principales: | Sindram, Elena, Caballero-Oteyza, Andrés, Kogata, Naoko, Chor Mei Huang, Shaina, Alizadeh, Zahra, Gámez-Díaz, Laura, Fazlollhi, Mohammad Reza, Peng, Xiao, Grimbacher, Bodo, Way, Michael, Proietti, Michele |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387347/ https://www.ncbi.nlm.nih.gov/pubmed/37382373 http://dx.doi.org/10.1242/dmm.050145 |
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