Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes

Journal of Medical Genetics

Volumn 41, Issue 10, 2004, Pages 763-767

  Yamamoto, K ^a   Ishii, Eiichi ^b   Sako, M ^c   Ohga, S ^d   Furuno, K ^a   Suzuki, N ^e   Ueda, I ^f   Imayoshi, M ^b   Yamamoto, S ^b   Morimoto, A ^f   Takada, H ^g   Hara, T ^d   Imashuku, S ^f   Sasazuki, T ^g   Yasukawa, M ^h  

^a KYUSHU UNIVERSITY   (Japan)

^b SAGA UNIVERSITY   (Japan)

^c OSAKA CITY GENERAL HOSPITAL   (Japan)

^d KYUSHU UNIVERSITY   (Japan)

^e SAPPORO MEDICAL UNIVERSITY   (Japan)

^f KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^g NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^h EHIME UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PERFORIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE; CYTOTOXICITY; DISEASE CLASSIFICATION; FEMALE; GENE; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; JAPAN; LYMPHOCYTE FUNCTION; MALE; MUNC13 4 GENE; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; ONSET AGE; PRF1 GENE; PRIORITY JOURNAL;

AGE OF ONSET; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HISTIOCYTOSIS, NON-LANGERHANS-CELL; HUMANS; INFANT; INTRONS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; T-LYMPHOCYTES, CYTOTOXIC;

EID: 6344249090     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.021121     Document Type: Article

References (16)

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