Article
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
Human mutation - 1 Jan 2001
Bochmann H, Geisel J, Herrmann W, Purcz T, Reuter W, Julius U, Metzler W, Bergmann S, Jaross W, Gehrisch S
Abstract excerpt
LDL apheresis is highly efficient in reducing elevated plasma cholesterol. Due to strict indications only patients with severe, refractory hypercholesterolemia are treated with this method. Mutations in the LDL receptor gene are major genetic causes for severe hypercholesterolemia. Screening the entire gene in LDL apheresis patients from Saxony should determine whether an increased frequency of defined mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.