Inherited biallelic CSF3R mutations in severe congenital neutropenia

Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CS...

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Bibliografiska uppgifter
Huvudupphovsmän: Triot, Alexa, Järvinen, Päivi M., Arostegui, Juan I., Murugan, Dhaarini, Kohistani, Naschla, Dapena Díaz, José Luis, Racek, Tomas, Puchałka, Jacek, Gertz, E. Michael, Schäffer, Alejandro A., Kotlarz, Daniel, Pfeifer, Dietmar, Díaz de Heredia Rubio, Cristina, Ozdemir, Mehmet Akif, Patiroglu, Turkan, Karakukcu, Musa, Sánchez de Toledo Codina, José, Yagüe, Jordi, Touw, Ivo P., Unal, Ekrem, Klein, Christoph
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society of Hematology 2014
Ämnen:
Phagocytes, Granulocytes, and Myelopoiesis
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4055927/
https://ncbi.nlm.nih.gov/pubmed/24753537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-11-535419
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