Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.


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Carapito R., Konantz M., Paillard C., Miao Z., Pichot A., Leduc M., ...More

The Journal of clinical investigation, vol.127, pp.4090-4103, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 127
  • Publication Date: 2017
  • Doi Number: 10.1172/jci92876
  • Journal Name: The Journal of clinical investigation
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.4090-4103
  • Hacettepe University Affiliated: Yes