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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...

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Detalles Bibliográficos
Autores principales: Antala, Swati, Whitehead, Bridget, Melin-Aldana, Hector, Bass, Lee M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2021
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