Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. [electronic resource]
- Journal of medical genetics Oct 2004
- 763-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2004.021121 doi
Age of Onset DNA Mutational Analysis Exons--genetics Female Histiocytosis, Non-Langerhans-Cell--genetics Humans Infant Introns--genetics Japan Male Molecular Sequence Data Mutation--genetics Nerve Tissue Proteins--deficiency Pedigree T-Lymphocytes, Cytotoxic--immunology