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Mutations in the human LDL receptor gene (LDLR) causing familial hypercholesterolemia
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May facilitate LDLR analysis in familial hypercholesterolemia; leaves open prospective validation of clinical utility.
The creation of a software package and database for LDLR mutations facilitates genotype-phenotype analysis in familial hypercholesterolemia.
Varret et al. (1997) studied this question.
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