Mutations in Signal Recognition Particle SRP54 Cause Syndromic Neutropenia with Shwachman-Diamond–like Features
Raphael Carapito,Martina Konantz,Catherine Paillard,Zhichao Miao,Angelique Pichot,Magalie S. Leduc,Yaping Yang,Katie L. Bergstrom,Donald H. Mahoney, Deborah L. Shardy,Ghada Alsaleh,Lydie Naegely,Aline Kolmer,Nicodeme Paul,Antoine Hanauer,Veronique Rolli,Joelle S. Mueller,Elisa Alghisi,Loic Sauteur,Cecile Macquin,Aurore Morlon, Consuelo Sebastia Sancho,Patrizia Amati-Bonneau,Vincent Procaccio,Anne-Laure Mosca-Boidron,Nathalie Marle,Nael Osmani,Olivier Lefebvre,Jacky G. Goetz,Sule Unal,Nurten A. Akarsu,Mirjana Radosavljevic,Marie-Pierre Chenard,Fanny Rialland,Audrey Grain,Marie-Christine Bene,Marion Eveillard,Marie Vincent,Julien Guy,Laurence Faivre,Christel Thauvin-Robinet,Julien Thevenon,Kasiani Myers,Mark D. Fleming,Akiko Shimamura, Elodie Bottollier-Lemallaz,Eric Westhof,Claudia Lengerke,Bertrand Isidor,Seiamak Bahram Journal of Clinical Investigation（2017）
Key words
Shwachman-Diamond Syndrome,SBDS Gene,Interferon-? Pathway Defects
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