Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Journal of Clinical Investigation

Volumn 122, Issue 7, 2012, Pages 2439-2443

  Sankaran, Vijay G ^a,b,c,d   Ghazvinian, Roxanne ^c   Do, Ron ^a   Thiru, Prathapan ^b   Vergilio, Jo Anne ^c   Beggs, Alan H ^c,d   Sieff, Colin A ^c,d,e   Orkin, Stuart H ^c,d,e   Nathan, David G ^c,d,e   Lander, Eric S ^a,d,f   Gazda, Hanna T ^c,d  

^a BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^b WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e DANA FARBER CANCER INSTITUTE   (United States)

^f MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; HEMOGLOBIN; TRANSCRIPTION FACTOR GATA 1;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLACKFAN DIAMOND ANEMIA; BLEEDING; BONE MARROW BIOPSY; CASE REPORT; CONTROLLED STUDY; CORTICOSTEROID THERAPY; ERYTHROCYTE TRANSFUSION; ERYTHROPOIESIS; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HEMATOPOIESIS; HUMAN; MACROCYTIC ANEMIA; MALE; PATHOGENESIS; PRIORITY JOURNAL; RETICULOCYTE COUNT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING; TREATMENT RESPONSE; X CHROMOSOME;

ANEMIA, DIAMOND-BLACKFAN; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; EXOME; GATA1 TRANSCRIPTION FACTOR; GENETIC ASSOCIATION STUDIES; HEMATOPOIESIS; HUMANS; MALE; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE DELETION; YOUNG ADULT;

EID: 84863554398     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI63597     Document Type: Article

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