Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Published:2017-10-03 Issue:11 Volume:127 Page:4090-4103
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Carapito Raphael^ORCID,Konantz Martina,Paillard Catherine,Miao Zhichao,Pichot Angélique,Leduc Magalie S.,Yang Yaping,Bergstrom Katie L.,Mahoney Donald H.,Shardy Deborah L.,Alsaleh Ghada,Naegely Lydie,Kolmer Aline,Paul Nicodème,Hanauer Antoine,Rolli Véronique,Müller Joëlle S.,Alghisi Elisa,Sauteur Loïc,Macquin Cécile,Morlon Aurore,Sancho Consuelo Sebastia,Amati-Bonneau Patrizia,Procaccio Vincent,Mosca-Boidron Anne-Laure,Marle Nathalie,Osmani Naël^ORCID,Lefebvre Olivier^ORCID,Goetz Jacky G.,Unal Sule,Akarsu Nurten A.,Radosavljevic Mirjana,Chenard Marie-Pierre,Rialland Fanny,Grain Audrey,Béné Marie-Christine,Eveillard Marion,Vincent Marie,Guy Julien,Faivre Laurence,Thauvin-Robinet Christel,Thevenon Julien,Myers Kasiani^ORCID,Fleming Mark D.,Shimamura Akiko^ORCID,Bottollier-Lemallaz Elodie,Westhof Eric,Lengerke Claudia^ORCID,Isidor Bertrand,Bahram Seiamak

Funder

Agence Nationale de la Recherche

Institut National de la Santé et de la Recherche Médicale

Institut Universitaire de France

Université de Strasbourg

European Regional Development Fund

Swiss National Science Foundation

GENOMAX

Publisher

American Society for Clinical Investigation

Subject

General Medicine