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

Congenital neutropenias (CNs) are rare heterogeneous genetic disorders, with about 25% of patients without known genetic defects. Using whole-exome sequencing, we identified a heterozygous mutation in the SRP54 gene, encoding the signal recognition particle (SRP) 54 GTPase protein, in 3 sporadic cas...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2018
Assuntos:
Phagocytes, Granulocytes, and Myelopoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6536700/
https://ncbi.nlm.nih.gov/pubmed/29914977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2017-12-820308
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