A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Rama, Mélanie; Duflos, Claire; Melki, Isabelle; Bessis, Didier; Bonhomme, Axelle; Martin, Hélène; Doummar, Diane; Valence, Stéphanie; Rodriguez, Diana; Carme, Emilie; Genevieve, David; Heimdal, Ketil; Insalaco, Antonella; Franck, Nathalie; Queyrel-Moranne, Viviane; Tieulie, Nathalie; London, Jonathan; Uettwiller, Florence; Georgin-Lavialle, Sophie; Belot, Alexandre; Koné-Paut, Isabelle; Hentgen, Véronique; Boursier, Guilaine; Touitou, Isabelle; Sarrabay, Guillaume

期刊名称European Journal of Human Genetics
作者Rama, Mélanie; Duflos, Claire; Melki, Isabelle; Bessis, Didier; Bonhomme, Axelle; Martin, Hélène; Doummar, Diane; Valence, Stéphanie; Rodriguez, Diana; Carme, Emilie; Genevieve, David; Heimdal, Ketil; Insalaco, Antonella; Franck, Nathalie; Queyrel-Moranne, Viviane; Tieulie, Nathalie; London, Jonathan; Uettwiller, Florence; Georgin-Lavialle, Sophie; Belot, Alexandre; Koné-Paut, Isabelle; Hentgen, Véronique; Boursier, Guilaine; Touitou, Isabelle; Sarrabay, Guillaume
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小1028.07KB
发表时间2018-4-23
DOI10.1038/s41431-018-0130-6

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A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience