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American Society of Hematology, Blood, p. blood-2017-12-820308

DOI: 10.1182/blood-2017-12-820308

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

Journal article published in 2018 by Christine Bellanné-Chantelot ORCID, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Séverine Clauin, Aurélie Docet, Gandhi-Laurent Damaj, Thierry Leblanc, Isabelle Pellier, Cécile Stoven, Sylvie Souquere, Iléana Antony-Debré, Blandine Beaupain, Nathalie Aladjidi and other authors.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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Abstract

Key Points Identification of SRP54 mutations in congenital neutropenia. SRP54 mutations induce ER stress and autophagy associated with apoptosis.