last update: December 13, 2017
In this database you can find all mutations in the LDL-receptor,APOB- and PCSK9 genes, that are related to inherited hypercholesterolemia, identified by the Laboratory of Experimental Vascular Medicine. Most mutations have been found in patients of Dutch origin, but a substantial number has been found in patients from all over the world.
We have included detailed information on nucleotide position, amino acid change, country or region of origin, frequency and functionality. Additionally we have added literature references where available.
If you can not find a mutation that is known to be present in The Netherlands, please feel free to contact
Joep Defesche so that we can update our database.
Check Tools / Advanced Database/ for a more advanced search.