Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Podobne knjige/članki

• Congenital neutropenia: diagnosis, molecular bases and patient management
  od: Donadieu, Jean, et al.
  Izdano: (2011)
• Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
  od: Bellanné-Chantelot, Christine, et al.
  Izdano: (2018)
• Post‐COVID‐19 severe neutropenia
  od: Bouslama, Boutheina, et al.
  Izdano: (2020)
• Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim
  od: Donadieu, Jean, et al.
  Izdano: (2009)
• Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
  od: Beaussant Cohen, Sarah, et al.
  Izdano: (2012)