Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, BMC, Uppsala, Sweden.
Joakim
J
Klar
Ayda
A
Khalfallah
Pakeeza Shaiq
PS
Arzoo
Hanna T
HT
Gazda
Niklas
N
Dahl
D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000235:genetics*; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence; D055815:Young Adult
D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human
Diamond-Blackfan anaemia; GATA1 gene; recurrent mutation