Related Experiment Video

Updated: Sep 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Prevalence and Impact of a Pathogenic CYP27A1 Variant on the Phenotypes Among Patients with Monogenic Heterozygous

Hayato Tada1, Atsushi Furukawa1, Masayuki Takamura1

  • 1Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan.

Internal Medicine (Tokyo, Japan)
|September 23, 2026
PubMed
Abstract

Keywords:
CYP27A1LDL-CLDLRcholestanolfamilial hypercholesterolemia

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