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Journal Abstract Search
153 related items for PubMed ID: 1362925
1. 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 [Abstract] [Full Text] [Related]
2. Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects. Rødningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K. Clin Genet; 1993 Oct; 44(4):214-20. PubMed ID: 7903228 [Abstract] [Full Text] [Related]
6. Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics. Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ. Hum Genet; 1997 Aug; 100(2):266-70. PubMed ID: 9254862 [Abstract] [Full Text] [Related]
7. 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 [Abstract] [Full Text] [Related]
8. 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 [Abstract] [Full Text] [Related]
9. Identification of a deletion in the LDL receptor gene. A Finnish type of mutation. Aalto-Setälä K, Gylling H, Miettinen T, Kontula K. FEBS Lett; 1988 Mar 28; 230(1-2):31-4. PubMed ID: 2895023 [Abstract] [Full Text] [Related]
10. 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 28; 42(5):224-8. PubMed ID: 1486698 [Abstract] [Full Text] [Related]
11. An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia. Schlüter G, Wick U. Clin Genet; 1994 Feb 28; 45(2):84-7. PubMed ID: 8004803 [Abstract] [Full Text] [Related]
12. 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 28; 95(6):671-6. PubMed ID: 7789953 [Abstract] [Full Text] [Related]
13. 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 28; 93(5):538-40. PubMed ID: 8168830 [Abstract] [Full Text] [Related]
14. FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation. Cavanaugh JA, Easteal S, Simons LA, Thomas DW, Serjeantson SW. Hum Mutat; 1994 May 28; 4(4):276-80. PubMed ID: 7866407 [Abstract] [Full Text] [Related]
15. Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA. Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP. Hum Mutat; 1998 May 28; 12(2):95-102. PubMed ID: 9671270 [Abstract] [Full Text] [Related]
16. Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia). Garuti R, Lelli N, Barozzini M, Tiozzo R, Ghisellini M, Simone ML, Li Volti S, Garozzo R, Mollica F, Vergoni W, Bertolini S, Calandra S. Atherosclerosis; 1996 Mar 28; 121(1):105-17. PubMed ID: 8678915 [Abstract] [Full Text] [Related]
17. 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 28; 92(1):6-10. PubMed ID: 8103503 [Abstract] [Full Text] [Related]
18. Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion. Top B, Koeleman BP, Gevers Leuven JA, Havekes LM, Frants RR. Atherosclerosis; 1990 Aug 28; 83(2-3):127-36. PubMed ID: 1978682 [Abstract] [Full Text] [Related]