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Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

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Year: 2013
Type: article
Study design: Case Report
Source: Blood
DOI: 10.1182/blood.v122.21.1025.1025
Authors: Alexa Triot, Päivi M Järvinen, Juan I. Arostegui, Tomas Racek, Jacek Puchalka, Jose Luis Dapena Díaz, Naschla Kohistani, E. Michael Gertz, Alejandro A. Schäffer, Cristina Díaz de Heredia Rubio, Mehmet A. Ozdemir, Turkan Patiroglu, Musa Karakukcu, José Sanchez de Toledo Codina, Jordi Yagüe, Ekrem Unal, Christoph Klein
Institutions: Ludwig-Maximilians-Universität München, Hospital Clínic de Barcelona, Vall d'Hebron Hospital Universitari, National Institutes of Health, Erciyes University, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Universitat de Barcelona
Language: English

Topic: Blood disorders and treatments
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W2411544790
FWCI:
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Related to: 10
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