Matches in DBpedia 2015-10 for { ?s ?p "Activated PI3K delta Syndrome (APDS, also known as PASLI disease) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene which encodes the p110δ catalytic subunit of PI3Kδ.Further reading:APDS Syndrome ([1])Genetics Home Reference entry: APDS ([2])Online Mendelian Inheritance in Man: APDS (OMIM #615513).Key references:Jou ST, Chien YH, Yang YH, Wang TC, Shyur SD, Chou CC, Chang ML, Lin DT, Lin KH, Chiang BL."@en }
Showing triples 1 to 1 of
1
with 100 triples per page.
- Activated_PI3K_Delta_Syndrome comment "Activated PI3K delta Syndrome (APDS, also known as PASLI disease) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene which encodes the p110δ catalytic subunit of PI3Kδ.Further reading:APDS Syndrome ([1])Genetics Home Reference entry: APDS ([2])Online Mendelian Inheritance in Man: APDS (OMIM #615513).Key references:Jou ST, Chien YH, Yang YH, Wang TC, Shyur SD, Chou CC, Chang ML, Lin DT, Lin KH, Chiang BL.".