{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T16:50:55Z","timestamp":1760028655788},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T00:00:00Z","timestamp":1149120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background: Familial hypercholesterolemia (FH) is a frequent form of autosomal-dominant hypercholesterolemia that predisposes to premature coronary atherosclerosis. FH is caused by sequence variations in the gene coding for the LDL receptor (LDLR). This gene has a wide spectrum of sequence variations, and genetic diagnosis can be performed by 2 strategies.<\/jats:p>\n               <jats:p>Methods: Point variations and large rearrangements were screened along all the LDLR gene (promoter, exons, and flanking intron sequences).<\/jats:p>\n               <jats:p>Results: We screened a sample of 129 FH probands from the Valencian Community, Spain, and identified 54 different LDLR sequence variations. The most frequent (10% of cases) was 111insA, and 60% of the variants had a frequency as low as 1%. A previously described method for detection of known sequence variations in the Spanish population by DNA array analysis allowed the identification of only \u223c50% of patients with a variant LDLR gene and \u223c40% of the screened samples.<\/jats:p>\n               <jats:p>Conclusion: Our results indicate that the adequate procedure to identify LDLR sequence variations in outbreed populations should include screening of the entire gene.<\/jats:p>","DOI":"10.1373\/clinchem.2006.067645","type":"journal-article","created":{"date-parts":[[2006,4,21]],"date-time":"2006-04-21T00:28:33Z","timestamp":1145579313000},"page":"1021-1025","source":"Crossref","is-referenced-by-count":13,"title":["Analysis of Sequence Variations in the LDL Receptor Gene in Spain: General Gene Screening or Search for Specific Alterations?"],"prefix":"10.1093","volume":"52","author":[{"given":"Sebastian","family":"Blesa","sequence":"first","affiliation":[{"name":"Laboratorio de Estudios Gene\u0301ticos, Fundacio\u0301n de Investigacio\u0301n HCUV, Hospital Cli\u0301nico Universitario de Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Barbara","family":"Garcia-Garcia","sequence":"first","affiliation":[{"name":"Laboratorio de Estudios Gene\u0301ticos, Fundacio\u0301n de Investigacio\u0301n HCUV, Hospital Cli\u0301nico Universitario de Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Martinez-Hervas","sequence":"first","affiliation":[{"name":"Service of Endocrinology and Nutrition, Hospital Cli\u0301nico Universitario de Valencia, University of Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Luisa","family":"Mansego","sequence":"first","affiliation":[{"name":"Laboratorio de Estudios Gene\u0301ticos, Fundacio\u0301n de Investigacio\u0301n HCUV, Hospital Cli\u0301nico Universitario de Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Gonzalez-Albert","sequence":"first","affiliation":[{"name":"Laboratorio de Estudios Gene\u0301ticos, Fundacio\u0301n de Investigacio\u0301n HCUV, Hospital Cli\u0301nico Universitario de Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Francisco","family":"Ascaso","sequence":"first","affiliation":[{"name":"Service of Endocrinology and Nutrition, Hospital Cli\u0301nico Universitario de Valencia, University of Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Carmena","sequence":"first","affiliation":[{"name":"Service of Endocrinology and Nutrition, Hospital Cli\u0301nico Universitario de Valencia, University of Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Tomas","family":"Real","sequence":"first","affiliation":[{"name":"Service of Endocrinology and Nutrition, Hospital Cli\u0301nico Universitario de Valencia, University of Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe Javier","family":"Chaves","sequence":"first","affiliation":[{"name":"Laboratorio de Estudios Gene\u0301ticos, Fundacio\u0301n de Investigacio\u0301n HCUV, Hospital Cli\u0301nico Universitario de Valencia, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2006,6,1]]},"reference":[{"key":"2020022801312997600_R1","unstructured":"Goldstein JL, Hobbs H, Brown MS. 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