Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Blood20.30
Volume: 132, Issue: 12, Pages: 1318 - 1331
Published: Sep 20, 2018
Abstract
Key Points Identification of SRP54 mutations in congenital neutropenia. SRP54 mutations induce ER stress and autophagy associated with...
Paper Details
Title
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
Published Date
Sep 20, 2018
Journal
Volume
132
Issue
12
Pages
1318 - 1331
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