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Article

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

Journal of human genetics - 1 Jan 2002

Hattori Hiroaki, Hirayama Tsunenori, Nobe Yukiko, Nagano Makoto, Kujiraoka Takeshi, Egashira Tohru, Ishii Jun, Tsuji Masahiro, Emi Mitsuru

Abstract excerpt

In the course of investigations of familial coronary artery disease in Hokkaido, the northland of Japan, we identified 13 families affected by familial hypercholesterolemia. Among them, we identified eight novel mutations of the low-density lipoprotein (LDL) receptor gene, four of which caused frameshifts: (1) a 7-bp deletion at nucleotide (nt) 578-584 (codon 172-174, exon 4); (2) a 14-bp insertion at 682nt...

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PMID: 11916007
DOI: 10.1007/s100380200005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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