Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene

Journal of Korean Medical Science

Volumn 29, Issue 3, 2014, Pages 452-455

  Cho, Hye Kyung ^a   Jeon, In Sang ^a  

^a Gachon University   (South Korea)

Author keywords

Infection; Neutrophil elastase; Severe congenital neutropenia

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; LEUKOCYTE ELASTASE;

ADULT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENETICS; HUMAN; INFANT; INFECTION; ISOLATION AND PURIFICATION; METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS; MICROBIOLOGY; MUTATION; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RECURRENT DISEASE; SEVERE CONGENITAL NEUTROPENIA; SINGLE NUCLEOTIDE POLYMORPHISM; STAPHYLOCOCCUS INFECTION; STOMATITIS;

INFECTION; NEUTROPHIL ELASTASE; SEVERE CONGENITAL NEUTROPENIA;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; INFANT; LEUKOCYTE ELASTASE; METHICILLIN-RESISTANT STAPHYLOCOCCUS AUREUS; MUTATION; NEUTROPENIA; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECURRENCE; STAPHYLOCOCCAL INFECTIONS; STOMATITIS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84908477706     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2014.29.3.452     Document Type: Article

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