Recurrent GATA1 mutations in Diamond-Blackfan anaemia

British Journal of Haematology

Volumn 166, Issue 6, 2014, Pages 949-951

  Klar, Joakim ^a   Khalfallah, Ayda ^a   Arzoo, Pakeeza Shaiq ^a   Gazda, Hanna T ^b,c,d   Dahl, Niklas ^a,e  

^a UPPSALA UNIVERSITY   (Sweden)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

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

^e UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

Author keywords

Diamond Blackfan anaemia; GATA1 gene; Recurrent mutation

Indexed keywords

ADENOSINE DEAMINASE; CYTOSINE; GENOMIC DNA; GUANINE; HEMOGLOBIN; TRANSCRIPTION FACTOR GATA 1;

BLACKFAN DIAMOND ANEMIA; CASE REPORT; ERYTHROCYTE TRANSFUSION; ETHNIC GROUP; EXON; FAMILY STUDY; GATA1 GENE; GENE; HEMATOCRIT; HUMAN; LETTER; MACROCYTIC ANEMIA; MALE; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETICULOCYTE COUNT; SEQUENCE ANALYSIS; SWEDISH;

DIAMOND-BLACKFAN ANAEMIA; GATA1 GENE; RECURRENT MUTATION;

ADULT; ANEMIA, DIAMOND-BLACKFAN; GATA1 TRANSCRIPTION FACTOR; HUMANS; MALE; MUTATION; PEDIGREE; RECURRENCE; YOUNG ADULT;

EID: 84907598240     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12919     Document Type: Letter

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