Assertion: alport syndrome | /r/CreatedBy | mutation
Facets:
value: in col4a4
type: LOCATION
value: in col4a3
type: LOCATION
value: in col4a5
type: LOCATION
Source sentences:
text: Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, three of six human genes involved in basement membrane (type IV) collagen biosynthesis.