A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia

Annals of Hematology

Volumn 88, Issue 6, 2009, Pages 593-595

  Lee, Seung Tae ^a   Yoon, Hoi Soo ^b   Kim, Hee Jin ^a   Lee, Jae Hee ^c   Park, Jun Hee ^b   Kim, Sun Hee ^a   Seo, Jong Jin ^c   Im, Ho Joon ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

^c University of Ulsan College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BUSULFAN; CYCLOPHOSPHAMIDE; CYCLOSPORIN; ELASTASE; ELASTASE II; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; METHOTREXATE; UNCLASSIFIED DRUG; VALINE; LEUKOCYTE ELASTASE;

AMINO ACID SUBSTITUTION; BONE MARROW CELL; CASE REPORT; CELL CYCLE ARREST; CHILD; CODON; CONGENITAL NEUTROPENIA; DISEASE SEVERITY; EAR INFECTION; GENE MUTATION; GENE SEQUENCE; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HUMAN; LETTER; MALE; MYELOID PROGENITOR CELL; NEUTROPENIA; NEUTROPHIL COUNT; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SKIN INFECTION; BIOLOGY; ENZYMOLOGY; GENETICS; KOREA; METABOLISM; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

ALANINE; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; HUMANS; KOREA; LEUKOCYTE ELASTASE; MALE; MUTATION; NEUTROPENIA;

EID: 67651050077     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-008-0629-y     Document Type: Letter

References (7)

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