Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia – do we have to screen?

Gelijkaardige items

• Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome
  door: Myers, Kasiani C., et al.
  Gepubliceerd in: (2013)
• Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein
  door: Ng, C Leong, et al.
  Gepubliceerd in: (2009)
• Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses
  door: Ball, Heather L., et al.
  Gepubliceerd in: (2009)
• Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
  door: Shimosato, Yuko, et al.
  Gepubliceerd in: (2017)
• Role of Shwachman-Bodian-Diamond syndrome protein in translation machinery and cell chemotaxis: a comparative genomics approach
  door: Vasieva O
  Gepubliceerd in: (2011-09-01)