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Article

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.

Pediatric blood & cancer - 1 Jun 2020

Goldberg Lior, Simon Amos J, Rechavi Gideon, Lev Atar, Barel Ortal, Kunik Vered, Toren Amos, Schiby Ginette, Tamary Hannah, Steinberg-Shemer Orna, Somech Raz

Abstract excerpt

BACKGROUND: The SRP54 (signal recognition protein 54) is a conserved component of the ribonucleoprotein complex that mediates cotranslational targeting and translocation of proteins to the endoplasmic reticulum. In 2017, mutations in the gene have been described as a cause of congenital neutropenia with or without pancreatic insufficiency, and since then, only limited cases were added to the literature. METHODS:...

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PMID: 32277798
DOI: 10.1002/pbc.28237

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