First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
作者信息
Bandini Perla, Borràs Nina, Fernandez Mellid Eugenia, Martin-Fernandez Laura, Melero Valentín Paula, Comes Natalia, Ramírez Lorena, Cadahia Fernández Patricia, Rodríguez Ruiz Matilde, Perez Encinas Manuel Mateo, Vidal Francisco, Corrales Irene
机构信息
Laboratori de Coagulopaties Congènites, Banc de Sang i Teixits, Barcelona, Spain.
Medicina Transfusional, Vall d'Hebron Insitut de Recerca, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain.
出版信息
Br J Haematol. 2023 Nov;203(4):e102-e107. doi: 10.1111/bjh.19050. Epub 2023 Sep 11.
PMID:37696499
Abstract
摘要
Zotero 插件