These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
190 related articles for article (PubMed ID: 1486698)
1. A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects. Leren TP; Solberg K; Røsby O; Rødningen OK; Tonstad S; Ose L; Berg K Clin Genet; 1992 Nov; 42(5):224-8. PubMed ID: 1486698 [TBL] [Abstract][Full Text] [Related]
2. Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop. Leren TP; Solberg K; Rødningen OK; Røsby O; Tonstad S; Ose L; Berg K Hum Genet; 1993 Aug; 92(1):6-10. PubMed ID: 8103503 [TBL] [Abstract][Full Text] [Related]
3. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. Loux N; Saint-Jore B; Collod G; Dairou F; Benlian P; Truffert J; Dastugue B; Douste-Blazy P; de Gennes JL; Junien C Hum Mutat; 1992; 1(4):325-32. PubMed ID: 1301940 [TBL] [Abstract][Full Text] [Related]
4. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584 [TBL] [Abstract][Full Text] [Related]
5. Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene. Solberg K; Rødningen OK; Tonstad S; Ose L; Leren TP Scand J Clin Lab Invest; 1994 Dec; 54(8):605-9. PubMed ID: 7709162 [TBL] [Abstract][Full Text] [Related]
6. Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia. Leren TP; Sundvold H; Rødningen OK; Tonstad S; Solberg K; Ose L; Berg K Hum Genet; 1995 Jun; 95(6):671-6. PubMed ID: 7789953 [TBL] [Abstract][Full Text] [Related]
7. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia]. Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035 [TBL] [Abstract][Full Text] [Related]
8. Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. Lee WK; Haddad L; Macleod MJ; Dorrance AM; Wilson DJ; Gaffney D; Dominiczak MH; Packard CJ; Day IN; Humphries SE; Dominiczak AF J Med Genet; 1998 Jul; 35(7):573-8. PubMed ID: 9678702 [TBL] [Abstract][Full Text] [Related]
9. Familial hypercholesterolemia study in Sardinia using 6 LDLR polymorphic markers based on PCR. Orrù S; Pintor S; Loizedda A; Giuressi E; Murru R; Casula M; Carcassi C; Deiana L; Contu L Am J Med Genet; 2000 Mar; 91(1):34-8. PubMed ID: 10751086 [TBL] [Abstract][Full Text] [Related]
10. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Leren TP; Solberg K; Rødningen OK; Tonstad S; Ose L Atherosclerosis; 1994 Dec; 111(2):175-82. PubMed ID: 7718019 [TBL] [Abstract][Full Text] [Related]
11. A novel missense mutation C127R (FH Zagreb) in the LDL-receptor gene. Rukavina AS; Topić RZ; Ferencak G; Sucic M Clin Chem Lab Med; 2001 Jun; 39(6):505-8. PubMed ID: 11506462 [TBL] [Abstract][Full Text] [Related]
12. Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia. Gundersen KE; Solberg K; Rødningen OK; Tonstad S; Ose L; Berg K; Leren TP Clin Genet; 1996 Feb; 49(2):85-7. PubMed ID: 8740918 [TBL] [Abstract][Full Text] [Related]
13. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations. Callis M; Jansen S; Thiart R; de Villiers JN; Raal FJ; Kotze MJ Mol Cell Probes; 1998 Jun; 12(3):149-52. PubMed ID: 9664576 [TBL] [Abstract][Full Text] [Related]
14. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. Jensen HK; Jensen LG; Meinertz H; Hansen PS; Gregersen N; Faergeman O Atherosclerosis; 1999 Oct; 146(2):337-44. PubMed ID: 10532689 [TBL] [Abstract][Full Text] [Related]
15. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C]. Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495 [TBL] [Abstract][Full Text] [Related]
16. Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands. Traeger-Synodinos J; Mavroidis N; Kanavakis E; Drogari E; Humphries SE; Day IN; Kattamis C; Matsaniotis N Hum Genet; 1998 Mar; 102(3):343-7. PubMed ID: 9544850 [TBL] [Abstract][Full Text] [Related]
17. A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. Leitersdorf E; Reshef A; Meiner V; Dann EJ; Beigel Y; van Roggen FG; van der Westhuyzen DR; Coetzee GA Hum Genet; 1993 Mar; 91(2):141-7. PubMed ID: 8462973 [TBL] [Abstract][Full Text] [Related]
18. A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). Lelli N; Garuti R; Pedrazzi P; Ghisellini M; Simone ML; Tiozzo R; Cattin L; Valenti M; Rolleri M; Bertolini S Hum Genet; 1994 May; 93(5):538-40. PubMed ID: 8168830 [TBL] [Abstract][Full Text] [Related]
19. Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia. Lind S; Eriksson M; Rystedt E; Wiklund O; Angelin B; Eggertsen G J Intern Med; 1998 Jul; 244(1):19-25. PubMed ID: 9698020 [TBL] [Abstract][Full Text] [Related]
20. A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects. Rødningen OK; Røsby O; Tonstad S; Ose L; Berg K; Leren TP Clin Genet; 1992 Dec; 42(6):288-95. PubMed ID: 1362925 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]