Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

Haematologica

Volumn 101, Issue 6, 2016, Pages e228-e231

  Li, Ruijuan ^a,b   Sobreira, Nara ^a   Witmer, P Dane ^a   Pratz, Keith W ^a   Braunstein, Evan M ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

AML; DDX41; Inherited; MDS; Novel mutation

Indexed keywords

TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR RUNX1; DDX41 PROTEIN, HUMAN; DEAD BOX PROTEIN; TUMOR PROTEIN;

ACUTE MYELOBLASTIC LEUKEMIA; AGED; CASE REPORT; CLINICAL FEATURE; CYTOPENIA; DDX41 GENE; FAMILY HISTORY; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GERMLINE MUTATION; HAPLOINSUFFICIENCY; HEMATOLOGIC MALIGNANCY; HUMAN; LETTER; LEUKEMOGENESIS; MALE; MYELODYSPLASTIC SYNDROME; POLYMERASE CHAIN REACTION; PYROSEQUENCING; RNA SPLICING; ACUTE MYELOID LEUKEMIA; FAMILY; FEMALE; GENETICS;

DEAD-BOX RNA HELICASES; FAMILY; FEMALE; GERM-LINE MUTATION; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MYELODYSPLASTIC SYNDROMES; NEOPLASM PROTEINS;

EID: 84971530401     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2015.139790     Document Type: Letter

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