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

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)

• 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
• Open Archive Collection: AVESIS Open Access Collection
• Hacettepe University Affiliated: Yes