Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.
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DOI: 10.1016/j.str.2020.09.008
Abstract: The SRP54 GTPase is a key component of co-translational protein targeting by the signal recognition particle (SRP). Point mutations in SRP54 have been recently shown to lead to a form of severe congenital neutropenia displaying… read more here.
Keywords: srp54 mutations; functional impact; congenital neutropenia; severe congenital ... See more keywords