Inherited biallelic CSF3R mutations in severe congenital neutropenia

Blood

Volumn 123, Issue 24, 2014, Pages 3811-3817

  Triot, Alexa ^a   Järvinen, Päivi M ^a   Arostegui, Juan I ^b   Murugan, Dhaarini ^a   Kohistani, Naschla ^a   Díaz, José Luis Dapena ^c   Racek, Tomas ^a   Puchałka, Jacek ^a   Gertz, E Michael ^d   Schäffer, Alejandro A ^d   Kotlarz, Daniel ^a   Pfeifer, Dietmar ^e   De Heredia Rubio, Cristina Díaz ^c   Ozdemir, Mehmet Akif ^f   Patiroglu, Turkan ^f   Karakukcu, Musa ^f   De Toledo Codina, José Sánchez ^c   Yagüe, Jordi ^b   Touw, Ivo P ^g   Unal, Ekrem ^f   Klein, Christoph ^a   more..

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e UNIVERSITY OF FREIBURG   (Germany)

^f ERCIYES UNIVERSITY MEDICAL FACULTY   (Turkey)

^g ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; GRANULOCYTE COLONY STIMULATING FACTOR; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; STAT3 PROTEIN; STAT5 PROTEIN;

ANIMAL CELL; ANTIBIOTIC THERAPY; ARTICLE; ASPIRATION PNEUMONIA; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD CELL COUNT; BONE MARROW BIOPSY; BONE MARROW CELL; BONE MARROW EXAMINATION; CELL MATURATION; CELL SURFACE; CHILD; CHROMOSOME 1; CHROMOSOME 17; CHROMOSOME 8; CILIARY DYSKINESIA; CLINICAL ARTICLE; CONTROLLED STUDY; DEXTROCARDIA; DRUG DOSE INCREASE; DRUG TREATMENT FAILURE; FEMALE; FLOW CYTOMETRY; FLUORESCENCE MICROSCOPY; GENETIC ANALYSIS; GLYCOSYLATION; HEMATOPOIETIC CELL; HOMOZYGOSITY; HOSPITAL ADMISSION; HOSPITALIZATION; HUMAN; HUMAN CELL; INFANT; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PYREXIA IDIOPATHICA; SEVERE CONGENITAL NEUTROPENIA; SIGNAL TRANSDUCTION; STOP CODON; SUPPURATIVE OTITIS MEDIA; URINARY TRACT INFECTION; WESTERN BLOTTING;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HELA CELLS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; NEUTROPENIA; PEDIGREE; RECEPTORS, COLONY-STIMULATING FACTOR;

EID: 84902577139     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-11-535419     Document Type: Article

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