167 related articles for article (PubMed ID: 9556295)
1. Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine.
Hasler-Rapacz J; Ellegren H; Fridolfsson AK; Kirkpatrick B; Kirk S; Andersson L; Rapacz J
Am J Med Genet; 1998 Apr; 76(5):379-86. PubMed ID: 9556295
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
5. Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.
Brugger D; Schuster H; Zöllner N
Eur J Med Res; 1996 May; 1(8):383-6. PubMed ID: 9360938
[TBL] [Abstract][Full Text] [Related]
6. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
Real JT; Chaves FJ; Ejarque I; García-García AB; Valldecabres C; Ascaso JF; Armengod ME; Carmena R
Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510
[TBL] [Abstract][Full Text] [Related]
7. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
Wang J; Huff E; Janecka L; Hegele RA
Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627
[TBL] [Abstract][Full Text] [Related]
8. Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.
Lin J; Wang LY; Liu S; Xia JH; Yong Q; Du LP; Pan XD; Xue H; Chen BS; Jiang ZS
Chin Med J (Engl); 2008 May; 121(9):776-81. PubMed ID: 18701038
[TBL] [Abstract][Full Text] [Related]
9. Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
Salazar LA; Hirata MH; Cavalli SA; Nakandakare ER; Forti N; Diament J; Giannini SD; Bertolami MC; Hirata RD
Hum Mutat; 2002 Apr; 19(4):462-3. PubMed ID: 11933210
[TBL] [Abstract][Full Text] [Related]
10. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
Lin J; Wang LY; Liu S; Pan XD; Du LP; Shi FR; Qin YW; Zhao Q; Guo HY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901
[TBL] [Abstract][Full Text] [Related]
11. Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.
Xie L; Gong QH; Xie ZG; Liang ZM; Hu ZM; Xia K; Xia JH; Yang YF
Chin Med J (Engl); 2007 Oct; 120(19):1694-9. PubMed ID: 17935672
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Homozygous DNA variants in exon 9 of the LDL receptor gene in a Thai patient with primary hypercholesterolemia phenotype.
Pongrapeeporn K; Yamwong P; Nuchpramool W; Sribhen K; Thepsuriyanon P; Leowattana W; Ong-Ajyooth S
J Med Assoc Thai; 2001 Dec; 84 Suppl 3():S690-5. PubMed ID: 12002911
[TBL] [Abstract][Full Text] [Related]
14. LDL-receptor mutations in Europe.
Dedoussis GV; Schmidt H; Genschel J
Hum Mutat; 2004 Dec; 24(6):443-59. PubMed ID: 15523646
[TBL] [Abstract][Full Text] [Related]
15. Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
Cefalù AB; Barraco G; Noto D; Valenti V; Barbagallo CM; Elisir GD; Cuniberti LA; Werba JP; Libra M; Costa S; Gianguzza F; Notarbartolo A; Travali S; Averna MR
Int J Mol Med; 2006 Mar; 17(3):539-46. PubMed ID: 16465405
[TBL] [Abstract][Full Text] [Related]
16. A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.
Hopkins PN; Wu LL; Stephenson SH; Xin Y; Katsumata H; Nobe Y; Nakajima T; Hirayama T; Emi M; Williams RR
J Hum Genet; 1999; 44(6):364-7. PubMed ID: 10570905
[TBL] [Abstract][Full Text] [Related]
17. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
Azian M; Hapizah MN; Khalid BA; Khalid Y; Rosli A; Jamal R
Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
[TBL] [Abstract][Full Text] [Related]
18. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
Civeira F; Jarauta E; Cenarro A; García-Otín AL; Tejedor D; Zambón D; Mallen M; Ros E; Pocoví M
J Am Coll Cardiol; 2008 Nov; 52(19):1546-53. PubMed ID: 19007590
[TBL] [Abstract][Full Text] [Related]
19. Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.
Thiart R; Loubser O; de Villiers JN; Santos M; Kotze MJ
Mol Cell Probes; 1997 Dec; 11(6):457-8. PubMed ID: 9500809
[TBL] [Abstract][Full Text] [Related]
20. Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.
Bourbon M; Rato Q;
Rev Port Cardiol; 2006 Nov; 25(11):999-1013. PubMed ID: 17274457
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
