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

Yamamoto, K

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