Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

Human Molecular Genetics

Volumn 14, Issue 6, 2005, Pages 827-834

  zur Stadt, Udo ^a   Schmidt, Susanne ^b   Kasper, Brigitte ^c   Beutel, Karin ^a   Diler, A Sarper ^d   Henter, Jan Inge ^e   Kabisch, Hartmut ^a   Schneppenheim, Reinhard ^a   Nürnberg, Peter ^b,f   Janka, Gritta ^a   Hennies, Hans Christian ^b  

^a UNIVERSITY OF HAMBURG   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c RESEARCH CENTER BORSTEL   (Germany)

^d ISTANBUL UNIVERSITY   (Turkey)

^e KAROLINSKA INSTITUTE   (Sweden)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PERFORIN; SYNTAXIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CELL FRACTIONATION; CELL FUNCTION; CELL TRANSPORT; CELL VACUOLE; CHROMOSOME 6Q; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE ASSOCIATION; ENDOCYTOSIS; EXOCYTOSIS; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE; MEMBRANE FUSION; MONONUCLEAR CELL; MULTIGENE FAMILY; NATURAL KILLER CELL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHAGOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; TURKEY (REPUBLIC);

CHROMOSOMES, HUMAN, PAIR 6; CODON, NONSENSE; HISTIOCYTOSIS, NON-LANGERHANS-CELL; HUMANS; LINKAGE (GENETICS); MEMBRANE PROTEINS; PEDIGREE; QA-SNARE PROTEINS; SEQUENCE DELETION;

EID: 20144363940     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi076     Document Type: Article

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