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2020•AtherosclerosisRequires access

A case of phenotypic homozygous familial hypercholesterolemia associated with homozygosity of the LDLR variant C.798T>A P.(ASP266GLU)

Julius L. Katzmann, Adrienn Tünnemann-Tarr, Winfried März, Stefanie Schwab, Ulrich Laufs

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Key concepts: Familial hypercholesterolemia, LDL receptor, Phenotype, Genetics, Causality (physics), Mutation, Medicine, Internal medicine

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A case of phenotypic homozygous familial hypercholesterolemia associated with homozygosity of the LDLR variant C.798T>A P.(ASP266GLU) — Research Paper | ScholarLens