Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry
法国严重先天性中性粒细胞减少症登记处14例G6PC3突变患者的临床表现及长期随访
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-014-0183-8
Desplantes, Claire; Fremond, Marie Louise; Beaupain, Blandine; Harousseau, Jean Luc; Buzyn, Agnès; Pellier, Isabelle; Roques, Gaelle; Morville, Pierre; Paillard, Catherine; Bruneau, Julie; Pinson, Lucile; Jeziorski, Eric; Vannier, Jean Pierre; Picard, Capucine; Bellanger, Florence; Romero, Norma; de Pontual, Loïc; Lapillonne, Hélène; Lutz, Patrick; Chantelot, Christine Bellanné; Donadieu, Jean