New GATA1 mutation in codon 2 leads to the earliest known premature stop codon in transient myeloproliferative disorder.
Hoeller
Sylvia
S
Bihl
Michel P
MP
Tzankov
Alexandar
A
Kuehne
Thomas
T
Potthoff
Christian
C
Bruder
Elisabeth
E
D018389:Codon, Nonsense / Q000235:genetics*; D017809:Fatal Outcome; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology*
D018389:Codon, Nonsense; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human