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Journal Articles

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

Christine Bellanné-Chantelot, 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, Vincent Barlogis, Frédéric Bauduer, Philippe Bensaid, Odile Boespflug-Tanguy, Claire Berger, Yves Bertrand, Liana Carausu, Claire Fieschi, Claire Galambrun, Aline Schmidt, Hubert Journel, Françoise Mazingue, Brigitte Nelken, Thuan Chong Quah, Eric Oksenhendler, Marie Ouachée, Marlène Pasquet, Véronique Saada, Felipe Suarez, Gérard Pierron, William Vainchenker, Isabelle Plo, Jean Donadieu
Journal: Blood
Blood (2018) 132 (12): 1318–1331.
https://doi.org/10.1182/blood-2017-12-820308
Published: 2018
Includes: Supplemental data
Journal Articles

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Christine Bellanné-Chantelot, PharmD, PhD, Caroline Marty, PhD, Barbara Schmaltz-Panneau, PhD, Odile Fenneteau, MD, Isabelle Callebaut, PhD, Séverine Clauin, Aurélie Docet, Gandhi Damaj, MD, Thierry Leblanc, MD, Isabelle Pellier, MD, Cécile Stoven, MD, Sylvie Souquere, PhD, Iléana Antony-Debre, PhD, Blandine Beaupain, MsC, Nathalie Aladjidi, MD, Vincent Barlogis, MD, Frederic Bauduer, MD PhD, Philippe Bensaid, MD, Odile Boesflug-Tanguy, MDPhD, Claire Berger, MD, Yves Bertrand, MD, Liana Carausu, MD, Claire Fieschi, MD PhD, Claire Galambrun, MD, Aline Schmidt, MD, Hubert Journel, MD, Francoise Mazingue, MD, Brigitte Nelken, MD, Thuan Chong Quah, MD, Eric Oksenhendler, MD, Marie Ouachee, MD, Marlène Pasquet, MD, Felipe Suarez, MDPhD, Gérard Pierron, PhD, William Vainchenker, MD PhD, Isabelle Plo, PhD, Jean Donadieu, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): LBA-3.
https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3
Published: 2017