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C. L. Snozek, et al., “LDLR Promoter Variant and Exon 14 Mutation on the Same Chromosome Are Associated with an Unusually Severe FH Phenotype and Treatment Resistance,” European Journal of Human Genetics, Vol. 17, No. 1, 2009, pp. 85-89. doi:10.1038/ejhg.2008.199

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