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A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia

Hayato Tada, Mika Hori, Akihiro Nomura, Kazuyoshi Hosomichi, Atsushi Nohara, Masa‐aki Kawashiri, Mariko Harada‐Shiba

2020Journal of clinical lipidology36 citationsDOI

Topics & Concepts

Familial hypercholesterolemiaGeneticsMissense mutationSanger sequencingMutationGene mutationMedicineGeneNonsynonymous substitutionBiologyInternal medicineGenomeCholesterolLipoproteins and Cardiovascular HealthCholesterol and Lipid MetabolismDiabetes, Cardiovascular Risks, and Lipoproteins
A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia | Litcius