{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T03:35:27Z","timestamp":1777433727765,"version":"3.51.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2002,9,1]],"date-time":"2002-09-01T00:00:00Z","timestamp":1030838400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Clin Biochem"],"published-print":{"date-parts":[[2002,9,1]]},"abstract":"<jats:p>Mutations in the LDL receptor (LDLR) cause familial hypercholesterolaemia (FH) in an autosomal dominant manner. The condition frequently progresses to coronary atherosclerosis. We describe a patient with FH, but without ischaemic heart disease, who had a novel frameshift mutation (327insC) in exon 4 of the LDLR gene. This mutation introduced a premature termination codon (TGA, codon 158). The patient was a 59-year-old man who had presented with hypercholesterolaemia and a plasma total cholesterol (TC) concentration of 12\u00b72 mmol\/L at age 44 years. The mutation 327insC in this patient was heterozygous and hypercholesterolaemia was common within his family. Despite taking lipid-lowering medications (probucol and pravastatin) for more than 20 years, his TC concentration hardly fell below 7\u00b78 mmol\/L. However, neither the patient nor anyone else in his family developed characteristic symptoms of ischaemic heart disease or xanthoma. This patient was discovered by an intensive mutation survey among 22 unrelated Japanese with FH mainly in the Kanto area of Japan, suggesting a low incidence of the mutation in the area.<\/jats:p>","DOI":"10.1258\/000456302320314593","type":"journal-article","created":{"date-parts":[[2002,10,16]],"date-time":"2002-10-16T05:28:56Z","timestamp":1034746136000},"page":"526-530","source":"Crossref","is-referenced-by-count":1,"title":["Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene"],"prefix":"10.1177","volume":"39","author":[{"given":"Ryoji","family":"Hirota","sequence":"first","affiliation":[{"name":"Department of Clinical Pathology, Omiya Medical Center, Jichi Medical School, Saitama Prefecture 330-8503, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Kubo","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology Omiya Medical Center Jichi Medical School Saitama Prefecture 330-8503, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumasa","family":"Hikiji","sequence":"additional","affiliation":[{"name":"Laboratory of Diagnostic Reagents SRL Inc Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumiko","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Medicine and Gerontology Kyorin University School of Medicine Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiya","family":"Hata","sequence":"additional","affiliation":[{"name":"Department of Medicine and Gerontology Kyorin University School of Medicine Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikunosuke","family":"Sakurabayashi","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology Omiya Medical Center Jichi Medical School Saitama Prefecture 330-8503, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2002,9,1]]},"container-title":["Annals of Clinical Biochemistry: International Journal of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/000456302320314593","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/000456302320314593","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:52:10Z","timestamp":1777377130000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1258\/000456302320314593"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,1]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,9,1]]}},"alternative-id":["10.1258\/000456302320314593"],"URL":"https:\/\/doi.org\/10.1258\/000456302320314593","relation":{},"ISSN":["0004-5632","1758-1001"],"issn-type":[{"value":"0004-5632","type":"print"},{"value":"1758-1001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9,1]]}}}