STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America

Pediatric Blood and Cancer

Volumn 55, Issue 1, 2010, Pages 134-140

  Marsh, Rebecca A ^a   Satake, Noriko ^b   Biroschak, Jennifer ^a   Jacobs, Thedia ^a   Johnson, Judith ^a   Jordan, Michael B ^a   Bleesing, Jack J ^a   Filipovich, Alexandra H ^a   Zhang, Kejian ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Familial hemophagocytic lymphohistiocytosis; Familial hemophagocytic lymphohistiocytosis type 4; FHL; FHLH; HLH; STX11; Syntaxin 11

Indexed keywords

SYNTAXIN; SYNTAXIN 11; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CAUCASIAN; CELL FUNCTION; CYTOTOXICITY; DEGRANULATION; FAMILIAL DISEASE; GENE EXPRESSION; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; INFANT; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NATURAL KILLER CELL; NORTH AMERICA; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; HUMANS; INFANT; INFANT, NEWBORN; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MUTATION; NORTH AMERICA; PEDIGREE; PHENOTYPE; QA-SNARE PROTEINS; SIBLINGS;

EID: 77953269026     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22499     Document Type: Article

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