@article{oai:kanazawa-u.repo.nii.ac.jp:00013241,
 author = {Mabuchi, Hiroshi and Nohara, Atsushi and Noguchi, Tohru and Kobayashi, Junji and Kawashiri, Masaaki and Tada, Hayato and Nakanishi, Chiaki and Mori, Mika and Yamagishi, Masakazu and Inazu, Akihiro and Koizumi, Junji and Hokuriku FH Study Group},
 issue = {2},
 journal = {Atherosclerosis},
 month = {Feb},
 note = {Aim: Familial hypercholesterolemia (FH) is caused by mutations of FH genes, i.e. LDL-receptor (LDLR), PCSK9 and apolipoprotein B (ApoB) gene. We evaluated the usefulness of DNA analysis for the diagnosis of homozygous FH (homo-FH), and studied the frequency of FH in the Hokuriku district of Japan. Methods: Twenty-five homo-FH patients were recruited. LDLR mutations were identified using the Invader assay method. Mutations in PCSK9 were detected by PCR-SSCP followed by direct sequence analysis. Results: We confirmed 15 true homozygotes and 10 compound heterozygotes for LDLR mutations. Three types of double heterozygotes for LDLR and PCSK9 were found. No FH patients due to ApoB mutations were found. The incidences of homo-FH and hetero-FH in the Hokuriku district were 1/171,167 and 1/208, respectively. Conclusions: Our observations underlined the value of FH gene analysis in diagnosing homo-FH and confirmed extraordinarily high frequency of FH in the Hokuriku district of Japan. © 2010 Elsevier Ireland Ltd., 金沢大学医学系研究科},
 pages = {404--407},
 title = {Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan},
 volume = {214},
 year = {2011}
}