Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

Nature Genetics

Volumn 34, Issue 3, 2003, Pages 308-312

  Person, Richard E ^a   Li, Feng Qian ^a   Duan, Zhijun ^a   Benson, Kathleen F ^a   Wechsler, Jeremy ^a   Papadaki, Helen A ^b   Eliopoulos, George ^b   Kaufman, Christina ^c   Bertolone, Salvatore J ^c   Nakamoto, Betty ^a   Papayannopoulou, Thalia ^a   Grimes, H Leighton ^c   Horwitz, Marshall ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CRETE   (Greece)

^c University of Louisville School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEUKOCYTE ELASTASE; ONCOPROTEIN; PROTEIN GF11; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BONE MARROW CELL; CASE REPORT; CELL DIFFERENTIATION; CHROMATIN; CONTROLLED STUDY; DNA BINDING; ELA2 GENE; FEMALE; GENE; GENE MUTATION; GFI1 GENE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFANT; MALE; NEUTROPENIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTO ONCOGENE; TRANSCRIPTION REGULATION;

ADULT; AGED; CHILD, PRESCHOOL; CHROMOSOMES; COLONY-FORMING UNITS ASSAY; DNA-BINDING PROTEINS; FEMALE; HUMANS; INFANT; LEUKOCYTE ELASTASE; LUCIFERASES; MALE; MUTATION, MISSENSE; NEUTROPENIA; NEUTROPHILS; PEDIGREE; PRECIPITIN TESTS; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 0038757823     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1170     Document Type: Article

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