Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis

Journal of Pediatric Hematology/Oncology

Volumn 30, Issue 8, 2008, Pages 621-624

  Fatma, Al Jasmi ^a   Abdelhaleem, Mohamed ^b   Stockley, Tracy ^b   Lee, Kyong Soon ^c   Clarke, Joe T R ^a,c  

^a Molecular Hematopathology Laboratory   (Canada)

^b Department of Pediatric Laboratory Medicine ^*  (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Familial hemophagocytic; Hemochromatosis; Lymphohistiocytosis; Misattributed paternity; Perforin; Uniparental disomy

Indexed keywords

ACICLOVIR; AMPICILLIN; BLOOD CLOTTING FACTOR 7; CEFOTAXIME; FRESH FROZEN PLASMA; GLUCAGON; GLUCOSE; IMMUNOGLOBULIN; METHYLPREDNISOLONE; PERFORIN;

ADD ON THERAPY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; CRYOPRECIPITATE; DISSEMINATED INTRAVASCULAR CLOTTING; FAMILIAL DISEASE; FATALITY; FEVER; GENE; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; INFANT; LABORATORY TEST; MALE; MULTIPLE ORGAN FAILURE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERFORIN GENE; PRIORITY JOURNAL; RISK; SEPSIS; THORAX RADIOGRAPHY; THROMBOCYTOPENIA; UNIPARENTAL DISOMY; ADULT; FEMALE; GENETICS; MOTHER; NEWBORN; PEDIGREE; STOP CODON;

ADULT; CODON, NONSENSE; FEMALE; HUMANS; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MOTHERS; PEDIGREE; PERFORIN; UNIPARENTAL DISOMY;

EID: 53749089464     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e31817580fd     Document Type: Article

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