TY  - GEN
AU  - Yamamoto,K
AU  - Ishii,E
AU  - Sako,M
AU  - Ohga,S
AU  - Furuno,K
AU  - Suzuki,N
AU  - Ueda,I
AU  - Imayoshi,M
AU  - Yamamoto,S
AU  - Morimoto,A
AU  - Takada,H
AU  - Hara,T
AU  - Imashuku,S
AU  - Sasazuki,T
AU  - Yasukawa,M
TI  - Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes
SN  - 1468-6244
PY  - 2005///0804
KW  - Age of Onset
KW  - DNA Mutational Analysis
KW  - Exons
KW  - genetics
KW  - Female
KW  - Histiocytosis, Non-Langerhans-Cell
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Japan
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - deficiency
KW  - Pedigree
KW  - T-Lymphocytes, Cytotoxic
KW  - immunology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2004.021121
ER  -