ELANE Mutations in Cyclic and Severe Congenital Neutropenia. Genetics and Pathophysiology.

Hematology/Oncology Clinics of North America

Volumn 27, Issue 1, 2013, Pages 19-41

  Horwitz, Marshall S ^a   Corey, Seth J ^b   Grimes, H Leighton ^c   Tidwell, Timothy ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cyclic neutropenia; ELANE; Granulocyte colony stimulating factor (G CSF); Neutrophil elastase; Severe congenital neutropenia

Indexed keywords

ADAPTER PROTEIN 3; ALPHA 1 ANTITRYPSIN; GRANULOCYTE COLONY STIMULATING FACTOR; LEUKOCYTE ELASTASE; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

BIOCHEMISTRY; ELANE GENE; ELECTRON MICROSCOPY; ENZYME DEFECT; ENZYME STRUCTURE; ENZYME SYNTHESIS; EXON; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC MODEL; GENETICS; HEREDITY; HUMAN; HYPOTHESIS; LIVER TOXICITY; MYELOID PROGENITOR CELL; NEUTROPENIA; NEUTROPHIL COUNT; NEUTROPHIL GRANULE; NONHUMAN; NONSENSE MUTATION; PAPILLON LEFEVRE SYNDROME; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SEVERE CONGENITAL NEUTROPENIA; STOP CODON; TRANSLATION INITIATION;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; INHERITANCE PATTERNS; LEUKOCYTE ELASTASE; MICE; MUTATION; NEUTROPENIA; NEUTROPHILS;

EID: 84872719498     PISSN: 08898588     EISSN: 15581977     Source Type: Journal    
DOI: 10.1016/j.hoc.2012.10.004     Document Type: Review

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