Four novel ELANE mutations in patients with congenital neutropenia

Pediatric Blood and Cancer

Volumn 57, Issue 2, 2011, Pages 332-335

  Kurnikova, Maria ^a   Maschan, Michael ^b   Dinova, Evgeniya ^b   Shagina, Irina ^a   Finogenova, Natalia ^b   Mamedova, Elena ^b   Polovtseva, Tatyana ^b   Shagin, Dmitry ^a,c   Shcherbina, Anna ^b  

^a Evrogen Joint Stock Company   (Russian Federation)

^b Oncology and Immunology   (Russian Federation)

^c SHEMYAKIN OVCHINNIKOV INSTITUTE OF BIOORGANIC CHEMISTRY   (Russian Federation)

Author keywords

Cyclic neutropenia; ELA2; ELANE; Neutropenia; Neutrophil elastase

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELANE GENE; EXON; FEMALE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GINGIVITIS; HETEROZYGOSITY; HUMAN; HUMAN GENOME; INTRON; LYMPHADENITIS; MALE; MISSENSE MUTATION; NEUTROPHIL COUNT; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOMYELITIS; OTITIS; PERIODONTITIS; PERIOSTITIS; PNEUMONIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROMYELOCYTE; SCHOOL CHILD; SEPSIS; SEVERE CONGENITAL NEUTROPENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN ABSCESS; STOMATITIS;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HUMANS; INFANT; LEUKOCYTE ELASTASE; MALE; MUTATION; NEUTROPENIA; RUSSIA;

EID: 79958831736     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.23104     Document Type: Article

References (13)

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