Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases.
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DOI: 10.1089/gtmb.2019.0012
Abstract: Background and Aims: The genetic spectrum underlying familial hypercholesterolemia (FH) remains unclear, especially in northeastern China. The aim of this study was to delineate the FH genetic spectrum and identify specific characteristics of FH patients… read more here.
Keywords: diagnosed homozygous; clinically diagnosed; density lipoprotein; w483x novel ... See more keywords