000168720 001__ 168720
000168720 005__ 20260218132343.0
000168720 0247_ $$2doi$$a10.1002/(SICI)1098-1004(200005)15:5<483::AID-HUMU19>3.0.CO;2-Q
000168720 0248_ $$2sideral$$a50623
000168720 037__ $$aART-2000-50623
000168720 041__ $$aeng
000168720 100__ $$0(orcid)0000-0001-5956-4319$$aMozas, P.$$uUniversidad de Zaragoza
000168720 245__ $$aMutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.
000168720 260__ $$c2000
000168720 5060_ $$aAccess copy available to the general public$$fUnrestricted
000168720 5203_ $$aWe used the single strand conformation polymorphism (SSCP) method to investigate 36 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein receptor (LDLR) gene. Nineteen aberrant SSCP patterns were found, and the underlying mutations were characterized by DNA sequencing. In addition, we tested all patients for the presence of mutations in the gene coding for apolipoprotein B (apo B). Five missense mutations (Q71E, S156L, E256K, N543H and T705I), four nonsense mutations (W(-18)X, E10X, Q133X and C255X), six frameshift mutations (211delG, 518delG, 1045delC, 2085del19, 2207insT and 2393del9) and five splicing mutations (313+1G->C, 1061-8T->C, 1845+1G->C, 2140+5G->A and 2390-1G->C) were identified in the LDLR gene. In total, we detected 20 mutations, 3 of which, designated 1045delC, 1845+1G->C and 2207insT, have not been previously described. Seven patients were found to carry two different mutations in the same allele: W(-18)X and E256K (one patient), Q71E and 313+1G->C (two patients), 1061-8T->C and T705I (two patients), 518delG and 2140+5G->A (one patient) and N543H and 2393del9 (one patient). As we expected, there is a broad spectrum of mutations in the LDLR gene, given the genetic heterogeneity of the Spanish population. Hum Mutat 15:483–484, 2000. © 2000 Wiley-Liss, Inc.
000168720 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000168720 590__ $$a3.666$$b2000
000168720 591__ $$aGENETICS & HEREDITY$$b24 / 111 = 0.216$$c2000$$dQ1$$eT1
000168720 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000168720 700__ $$aCenarro, A.
000168720 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000168720 700__ $$aCastillo, S.
000168720 700__ $$aRos, E.
000168720 700__ $$0(orcid)0000-0001-8807-9187$$aPocovi, M.$$uUniversidad de Zaragoza
000168720 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina y Psiquiatr.$$cArea Medicina
000168720 7102_ $$11002$$2X$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cProy. investigación DEA
000168720 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000168720 773__ $$g15, 5 (2000), [6 pp.]$$pHuman mutat.$$tHUMAN MUTATION$$x1059-7794
000168720 8564_ $$s230088$$uhttps://zaguan.unizar.es/record/168720/files/texto_completo.pdf$$yPostprint
000168720 8564_ $$s2424114$$uhttps://zaguan.unizar.es/record/168720/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000168720 909CO $$ooai:zaguan.unizar.es:168720$$particulos$$pdriver
000168720 951__ $$a2026-02-18-12:27:31
000168720 980__ $$aARTICLE