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Article

Autosomal recessive hypercholesterolemia: a mild phenotype of familial hypercholesterolemia: insight from the kinetic study using stable isotope and animal studies.

Journal of atherosclerosis and thrombosis - 1 Jan 2015

Tada Hayato, Kawashiri Masa-Aki, Nohara Atsushi, Inazu Akihiro, Kobayashi Junji, Mabuchi Hiroshi, Yamagishi Masakazu

Abstract excerpt

Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited disorder, the cause of which is mutations in the low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. Only 36 families with 14 different mutations have been reported in the literature to date. The clinical phenotype of ARH is milder than that of homozygous familial hypercholesterolemia (FH) caused by LDL receptor...

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Source

Identifiers

PMID: 25399932
DOI: 10.5551/jat.27227

Genes

LDLRAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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