Catalog

Familial defective apolipoprotein B-100

No MMS code

Link to WHO Definition

Familial defective apolipoprotein B-100 – http://id.who.int/icd/entity/2106114192

This is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor (LDL Receptor).