title: Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?
authors: Axel
authors: A
authors: Karow
authors: Christian
authors: C
authors: Flotho
authors: Michaela
authors: M
authors: Schneider
authors: Manfred
authors: M
authors: Fliegauf
authors: Charlotte M
authors: CM
authors: Niemeyer
mesh_terms: 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*
chemical_list: D011506:Proteins; C470521:SBDS protein, human