Fig. 2
From: The genetics and screening of familial hypercholesterolaemia
LDLR gene. a. Location of the LDLR gene, the short (p) arm of chromosome 19 at position 13.2. b. Numbered vertical bars represent exons, lone exons or sets of exons that encode the various domains of the LDLR protein. c. Currently 1,741 mutations have been identified in the exons of the LDLR gene. The phenotypic presentation of these sequence mutations are discussed in detail elsewhere [29, 30]. Partially adapted from [26]. Data extracted from [23–25]