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ARPC1B Mutation Manifesting as Recurrent Hematemesis With Metaplasia
ARPC1B is important in the maintenance and assembly of the ARP2/3 complex. Loss of this complex due to ARPC1B mutation results in impairment of actin polymerization and subsequent defects in chemotaxis, cell migration, and DNA repair. Individuals with this rare mutation present in infancy and have a...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins, Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191533/ https://www.ncbi.nlm.nih.gov/pubmed/37205964 http://dx.doi.org/10.1097/PG9.0000000000000095 |