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Article

A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

Atherosclerosis - 1 Dec 2011

Tada Hayato, Kawashiri Masa-aki, Ohtani Rumiko, Noguchi Tohru, Nakanishi Chiaki, Konno Tetsuo, Hayashi Kenshi, Nohara Atsushi, Inazu Akihiro, Kobayashi Junji, Mabuchi Hiroshi, Yamagishi Masakazu

Abstract excerpt

BACKGROUND: Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited hypercholesterolemia, the cause of which is mutations in low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. METHODS: A total of 146 heterozygous familial hypercholesterolemic (FH) patients with a mutation in LDLR gene were screened for genes encoding proprotein convertase subtilisin/kexin type 9 (PCSK9)...

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Source

Identifiers

PMID: 21872251
DOI: 10.1016/j.atherosclerosis.2011.08.004

Genes

LDLRAP1
LDLR
PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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