Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

Nature Genetics

Volumn 23, Issue 2, 1999, Pages 166-175

  Song, Woo Joo ^a   Sullivan, Melanie G ^a   Legare, Robert D ^b   Hutchings, Sarah ^a   Tan, Xiaolian ^a   Kufrin, Dubravka ^c   Ratajczak, Janina ^c   Resende, Isabel C ^c   Haworth, Catherine ^d   Hock, Randy ^e   Loh, Mignon ^a   Felix, Carolyn ^c   Roy, Denis Claude ^m   Busque, Lambert ^m   Kurnit, David ^f   Willman, Cheryl ^g   Gewirtz, Alan M ^c   Speck, Nancy A ^h   Bushweller, John H ⁱ   Li, Frederick P ^j   Gardiner, Katheleen ^k   Poncz, Mortimer ^c   Maris, John M ^c   Gilliland, D Gary ^a,l   more..

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b BROWN UNIVERSITY   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d LEICESTER ROYAL INFIRMARY   (United Kingdom)

^e ST VINCENT HOSPITAL   (United States)

^f UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^g UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^h DARTMOUTH MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF VIRGINIA   (United States)

^j HARVARD MEDICAL SCHOOL   (United States)

^k UNIVERSITY OF DENVER   (United States)

^l HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^m NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 21Q; COLONY FORMATION; DISEASE PREDISPOSITION; FAMILIAL DISEASE; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; MEGAKARYOCYTE; MISSENSE MUTATION; NONSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; THROMBOCYTE ANOMALY; THROMBOCYTOPENIA;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOOD PLATELETS; CHROMOSOME MAPPING; COLONY-FORMING UNITS ASSAY; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEMATOPOIESIS; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, MYELOCYTIC, ACUTE; MALE; MEGAKARYOCYTES; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTO-ONCOGENE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; THROMBOCYTOPENIA; TRANSCRIPTION FACTORS;

EID: 0032830638     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/13793     Document Type: Article

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