title: Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.
authors.affiliation: Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Hematology/Institute of Molecular Hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Ruijuan
authors.initials: R
authors.lastname: Li
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Nara
authors.initials: N
authors.lastname: Sobreira
authors.affiliation: Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: P Dane
authors.initials: PD
authors.lastname: Witmer
authors.affiliation: Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Keith W
authors.initials: KW
authors.lastname: Pratz
authors.affiliation: Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA ebrauns3@jhmi.edu.
authors.forename: Evan M
authors.initials: EM
authors.lastname: Braunstein
mesh_terms: D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005190:Family; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*
chemical_list: D009363:Neoplasm Proteins; C501226:DDX41 protein, human; D053487:DEAD-box RNA Helicases
keywords: AML; DDX41; MDS; inherited; novel mutation