Base Pair
Base Pair
2 months ago
genome.gov
7. Single base pair mutations responsible for human disordersFamilial hypercholesterolemia (FH) is a genetic disorder characterized by very high levels of cholesterol in the bloodand a high risk of coronary disease. FH is caused by mutations in the LDLR gene, which encodes a receptor used tobind and internalize cholesterol-carrying particles.More than 680 distinct LDLR mutations have been reported to cause FH, although some mutations are more commonthan others. The typical wild-type (healthy) al
7. Single base pair mutations responsible for human disordersF…
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