European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.

Abstract

The first European workshop on low-density lipoprotein (LDL) receptor defects in familial hypercholesterolaemia (FH) was held in Munich in November 1993 and was attended by 35 clinical scientists from 17 different countries. The aims of the meeting were to exchange information about techniques to identify patients with the disorder, to examine progress in mutation detection in the different countries, and to establish a collaborative framework to enable genotype-phenotype comparisons to be made by comparing and contrasting results from different countries. In this report, recent recommendations for mutation nomenclature [3] have been used.