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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2014
Témata:
Phagocytes, Granulocytes, and Myelopoiesis
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky