A number sign (#) is used with this entry because familial infantile myoclonic epilepsy is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene (613577) on chromosome 16p13. Mutation in the TBC1D24 gene can also cause early infantile epileptic encephalopathy-16 (EIEE16; 615338 ...
KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009). By screening an EST database with the KLRB1 (602890) cDNA sequence, followed by 5-prime RACE using ...