Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Nature Genetics

Volumn 47, Issue 5, 2015, Pages 535-538

  Noetzli, Leila ^a,b   Lo, Richard W ^c,d   Lee Sherick, Alisa B ^a   Callaghan, Michael ^e   Noris, Patrizia ^f   Savoia, Anna ^g,h   Rajpurkar, Madhvi ^h   Jones, Kenneth ^b   Gowan, Katherine ^b   Balduini, Carlo L ^f   Pecci, Alessandro ^f   Gnan, Chiara ^g,h   De Rocco, Daniela ^g,h   Doubek, Michael ⁱ   Li, Ling ^c   Lu, Lily ^c   Leung, Richard ^c   Landolt Marticorena, Carolina ^d   Hunger, Stephen ^a   Heller, Paula ^j   Gutierrez Hartmann, Arthur ^b,k   Xiayuan, Liang ^k   Pluthero, Fred G ^c   Rowley, Jesse W ^l   Weyrich, Andrew S ^l   Kahr, Walter H A ^c,d,m   Porter, Christopher C ^a   Di Paola, Jorge ^a,b,h   more..

^a Children's Hospital Colorado   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF PAVIA   (Italy)

^g UNIVERSITY OF TRIESTE   (Italy)

^h INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

ⁱ UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^j INSTITUTO DE INVESTIGACIONES MÉDICAS ALFREDO LANARI   (Argentina)

^k UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^m HOSPITAL FOR SICK CHILDREN   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR ETV6; REPRESSOR PROTEIN; TRANSCRIPTION FACTOR ETS;

ACUTE LYMPHOBLASTIC LEUKEMIA; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; CANCER RISK; CELL MATURATION; DNA BINDING; EXOME; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GERMLINE MUTATION; HUMAN; LYMPHATIC LEUKEMIA; MEAN CORPUSCULAR VOLUME; MEGAKARYOCYTE; MEGALOCYTOSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTOPENIA; ADULT; DNA MUTATIONAL ANALYSIS; ERYTHROCYTE DISORDER; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; HEK293 CELL LINE; HEMATOLOGIC DISEASE; MALE; MISSENSE MUTATION; PEDIGREE; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ERYTHROCYTES, ABNORMAL; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HEK293 CELLS; HEMATOLOGIC DISEASES; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROTO-ONCOGENE PROTEINS C-ETS; REPRESSOR PROTEINS; THROMBOCYTOPENIA;

EID: 84929130522     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3253     Document Type: Article

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