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2. A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation. Mavroidis N; Traeger-Synodinos J; Kanavakis E; Drogari E; Matsaniotis N; Humphries SE; Day IN; Kattamis C Hum Mutat; 1997; 9(3):274-6. PubMed ID: 9090532 [No Abstract] [Full Text] [Related]
3. Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. Tricot-Guerber F; Saint-Jore B; Valenti K; Foulon T; Bost M; Hadjian AJ Hum Mutat; 1995; 6(1):87-8. PubMed ID: 7550239 [No Abstract] [Full Text] [Related]
4. The study of natural and synthetic mutations in the LDL receptor. Russell DW Kidney Int Suppl; 1987 Dec; 23():S156-66. PubMed ID: 3126335 [No Abstract] [Full Text] [Related]
5. Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia. Laios E; Glynou K Clin Biochem; 2008 Jan; 41(1-2):38-40. PubMed ID: 17988659 [TBL] [Abstract][Full Text] [Related]
6. Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X. Genschel J; Thomas HP; Kassner U; Lochs H; Steinhagen-Thiessen E; Schmidt HH Hum Mutat; 2001 Apr; 17(4):354. PubMed ID: 11295843 [No Abstract] [Full Text] [Related]
7. Heterozygous familial hypercholesterolemia: a new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia. Widhalm K; Iro C; Lindemayr A; Schmidt H; Kostner G Hum Mutat; 1999 Oct; 14(4):357. PubMed ID: 10502834 [No Abstract] [Full Text] [Related]
8. Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia. Bilheimer DW; East C; Grundy SM; Nora JJ Am J Med Genet; 1985 Nov; 22(3):593-8. PubMed ID: 4061492 [TBL] [Abstract][Full Text] [Related]
9. LDL receptor research in China. Cai H; Fan L; Sun X; Chen Q Chin Med J (Engl); 1995 Mar; 108(3):177-82. PubMed ID: 7796624 [No Abstract] [Full Text] [Related]
10. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. Castillo S; Reyes G; Tejedor D; Mozas P; Suarez Y; Lasuncion MA; Cenarro A; Civeira F; Alonso R; Mata P; Pocovi M; Hum Mutat; 2002 Dec; 20(6):477. PubMed ID: 12442279 [TBL] [Abstract][Full Text] [Related]
14. [Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia]. Freiberger T; Kuhrová V; Kozák L; Soska V; Pekarík V; Mĕrínská L; Fajkusová L; Francová H Cas Lek Cesk; 1998 Dec; 137(24):750-2. PubMed ID: 10081189 [TBL] [Abstract][Full Text] [Related]
15. No prescription for despair. Robinson A CMAJ; 1993 Sep; 149(5):639-43. PubMed ID: 8364820 [No Abstract] [Full Text] [Related]
16. Genetic tests for familial hypercholesterolemia. Day I; Humphries S Nat Biotechnol; 1996 Oct; 14(10):1227-8. PubMed ID: 9631083 [No Abstract] [Full Text] [Related]
17. Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree. Miltiadous G; Elisaf M; Xenophontos S; Manoli P; Cariolou MA Hum Mutat; 2000 Sep; 16(3):277. PubMed ID: 10980548 [No Abstract] [Full Text] [Related]
18. Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online. Hattori H; Nagano M; Iwata F; Homma Y; Egashira T; Okada T Hum Mutat; 1999; 14(1):87. PubMed ID: 10447263 [TBL] [Abstract][Full Text] [Related]
19. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Muller PY; Miserez AR Atheroscler Suppl; 2004 Dec; 5(5):1-5. PubMed ID: 15556092 [TBL] [Abstract][Full Text] [Related]
20. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. Takada D; Emi M; Ezura Y; Nobe Y; Kawamura K; Iino Y; Katayama Y; Xin Y; Wu LL; Larringa-Shum S; Stephenson SH; Hunt SC; Hopkins PN J Hum Genet; 2002; 47(12):656-64. PubMed ID: 12522687 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]