{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T10:44:09Z","timestamp":1758278649266},"reference-count":20,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2009,8]]},"DOI":"10.1016\/j.cca.2009.05.017","type":"journal-article","created":{"date-parts":[[2009,5,24]],"date-time":"2009-05-24T08:24:39Z","timestamp":1243153479000},"page":"75-80","source":"Crossref","is-referenced-by-count":7,"title":["An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in Familial Hypercholesterolemia"],"prefix":"10.1016","volume":"406","author":[{"given":"Claudio","family":"Rabacchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Wunsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita","family":"Ghisellini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Marino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Pisciotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Bertolini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastiano","family":"Calandra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2009.05.017_bib1","series-title":"The metabolic and molecular bases of inherited diseases","first-page":"2863","article-title":"Familial hypercholesterolemia","author":"Goldstein","year":"2001"},{"key":"10.1016\/j.cca.2009.05.017_bib2","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/ncpcardio0836","article-title":"Mechanisms of disease. Genetic causes of familial hypercholesterolemia","volume":"4","author":"Soutar","year":"2007","journal-title":"Nat Clin Pract Cardiovasc Med"},{"key":"10.1016\/j.cca.2009.05.017_bib3","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.cccn.2005.01.028","article-title":"Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA","volume":"356","author":"Holla","year":"2005","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2009.05.017_bib4","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1471-2350-7-55","article-title":"Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects","volume":"7","author":"Nissen","year":"2006","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.cca.2009.05.017_bib5","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.atherosclerosis.2006.10.003","article-title":"Genetic defects causing familial hypercholesterolemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic","volume":"194","author":"Tosi","year":"2007","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.cca.2009.05.017_bib6","doi-asserted-by":"crossref","first-page":"e17","DOI":"10.1016\/j.atherosclerosis.2007.01.034","article-title":"A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing","volume":"195","author":"Bourbon","year":"2007","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.cca.2009.05.017_bib7","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.atherosclerosis.2005.11.016","article-title":"Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenoptypic comparison","volume":"188","author":"Pisciotta","year":"2006","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.cca.2009.05.017_bib8","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1161\/01.ATV.15.1.81","article-title":"Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia","volume":"15","author":"Bertolini","year":"1995","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.cca.2009.05.017_bib9","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/humu.1380010602","article-title":"Molecular genetics of the LDL receptor gene in familial hypercholesterolemia","volume":"1","author":"Hobbs","year":"1992","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2009.05.017_bib10","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1161\/01.ATV.19.2.408","article-title":"Analysis of LDL receptor mutations in Italian patients with homozygous familial hypercholesterolemia","volume":"19","author":"Bertolini","year":"1999","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.cca.2009.05.017_bib11","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/s00439-001-0628-8","article-title":"The molecular basis of familial hypercholesterolemia in the Netherlands","volume":"109","author":"Fouchier","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2009.05.017_bib12","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.atherosclerosis.2004.12.001","article-title":"The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population","volume":"180","author":"Damgaard","year":"2005","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.cca.2009.05.017_bib13","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/s00439-002-0813-4","article-title":"Intronic mutations outside of Alu-repeat rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia","volume":"111","author":"Amsellem","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2009.05.017_bib14","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/humu.1218","article-title":"Molecular genetics of familial hypercholesterolemia in Spain: ten novel LDLR mutations and population analysis","volume":"18","author":"Garcia-Garcia","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2009.05.017_bib15","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1034\/j.1399-0004.2000.570205.x","article-title":"Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands","volume":"57","author":"Lombardi","year":"2000","journal-title":"Clin Genet"},{"key":"10.1016\/j.cca.2009.05.017_bib16","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/humu.9218","article-title":"Molecular characterization of familial hypercholesterolemia in German and Greek patients","volume":"23","author":"Dedoussis","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2009.05.017_bib17","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1139\/g06-147","article-title":"Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia","volume":"49","author":"Hegele","year":"2006","journal-title":"Genome"},{"key":"10.1016\/j.cca.2009.05.017_bib18","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1136\/jmg.39.9.e57","article-title":"The intron 14 c.2140 + 5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels","volume":"39","author":"Whittal","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.cca.2009.05.017_bib19","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ymgme.2008.12.014","article-title":"Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: comparison of wet-lab and bioinformatic analyses","volume":"96","author":"Holla","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.cca.2009.05.017_bib20","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1136\/jmg.2007.057000","article-title":"Genetic diagnosis of familial hypercholesterolemia: the importance of functional analysis of potential splice-site mutations","volume":"46","author":"Bourbon","year":"2009","journal-title":"J Med Genet"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898109002770?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898109002770?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,19]],"date-time":"2018-12-19T10:29:27Z","timestamp":1545215367000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898109002770"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["S0009898109002770"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2009.05.017","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2009,8]]}}}