Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia

Journal of Korean Medical Science

Volumn 26, Issue 12, 2011, Pages 1646-1649

  Shim, Ye Jee ^a   Kim, Hee Jin ^b   Suh, Jang Soo ^a   Lee, Kun Soo ^c  

^a Kyungpook National University School of Medicine   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Kyungpook National University Hospital   (South Korea)

Author keywords

Neutrophil elastase; Severe congenital neutropenia

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; LEUKOCYTE ELASTASE;

ARTICLE; BACTERIAL INFECTION; BLOOD; CASE REPORT; DNA SEQUENCE; FEMALE; GENETICS; HUMAN; INFANT; LEUKOCYTE COUNT; LYMPHADENITIS; NEUTROPENIA; NEUTROPHIL; NUCLEOTIDE SEQUENCE; POINT MUTATION; SEVERE CONGENITAL NEUTROPENIA; SOUTH KOREA;

BACTERIAL INFECTIONS; BASE SEQUENCE; FEMALE; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; INFANT; LEUKOCYTE COUNT; LEUKOCYTE ELASTASE; LYMPHADENITIS; NEUTROPENIA; NEUTROPHILS; POINT MUTATION; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA;

EID: 84863029883     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2011.26.12.1646     Document Type: Article

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