Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

British Journal of Haematology

Volumn 143, Issue 1, 2008, Pages 75-83

  Horne, Annacarin ^a   Ramme, Kim Göransdotter ^a   Rudd, Eva ^a   Zheng, Chengyun ^a   Wali, Yasser ^b   Al Lamki, Zakia ^b   Gürgey, Aytemiz ^c   Yalman, Nevin ^d   Nordenskjöld, Magnus ^a   Henter, Jan Inge ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b SULTAN QABOOS UNIVERSITY   (Oman)

^c HACETTEPE UNIVERSITY   (Turkey)

^d ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Familial hemophagocytic lymphohistiocytosis; Phenotype; PRF1; STX11; UNC13D

Indexed keywords

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; CHILD; CLINICAL FEATURE; DISEASE COURSE; ETHNIC DIFFERENCE; FEMALE; FEVER; FOLLOW UP; GENE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; INFANT; LYMPHOCYTOTOXICITY; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; PRF1 GENE; PRIORITY JOURNAL; RISK FACTOR; SPLENOMEGALY; STEM CELL TRANSPLANTATION; STX11 GENE; UN13D GENE;

AGE OF ONSET; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LOGISTIC MODELS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MUTATION; ODDS RATIO; OMAN; PHENOTYPE; PORE FORMING CYTOTOXIC PROTEINS; QA-SNARE PROTEINS; RISK ASSESSMENT; SWEDEN; TURKEY;

EID: 51249096022     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07315.x     Document Type: Article

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