Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?
Karow
Axel
A
Flotho
Christian
C
Schneider
Michaela
M
Fliegauf
Manfred
M
Niemeyer
Charlotte M
CM
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000753:Anemia, Refractory / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008403:Mass Screening; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D011506:Proteins / Q000235:genetics*
D011506:Proteins; C470521:SBDS protein, human