143 related articles for article (PubMed ID: 21538688)
1. Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
De Castro-Orós I; Pampín S; Bolado-Carrancio A; De Cubas A; Palacios L; Plana N; Puzo J; Martorell E; Stef M; Masana L; Civeira F; Rodríguez-Rey JC; Pocoví M
Hum Mutat; 2011 Aug; 32(8):868-72. PubMed ID: 21538688
[TBL] [Abstract][Full Text] [Related]
2. A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.
Smith AJ; Ahmed F; Nair D; Whittall R; Wang D; Taylor A; Norbury G; Humphries SE
Eur J Hum Genet; 2007 Nov; 15(11):1186-9. PubMed ID: 17625505
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
Etxebarria A; Palacios L; Stef M; Tejedor D; Uribe KB; Oleaga A; Irigoyen L; Torres B; Ostolaza H; Martin C
Hum Mutat; 2012 Jan; 33(1):232-43. PubMed ID: 21990180
[TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of familial hypercholesterolemia in German and Greek patients.
Dedoussis GV; Genschel J; Bochow B; Pitsavos C; Skoumas J; Prassa M; Lkhagvasuren S; Toutouzas P; Vogt A; Kassner U; Thomas HP; Schmidt H
Hum Mutat; 2004 Mar; 23(3):285-6. PubMed ID: 14974088
[TBL] [Abstract][Full Text] [Related]
6. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P; Castillo S; Tejedor D; Reyes G; Alonso R; Franco M; Saenz P; Fuentes F; Almagro F; Mata P; Pocoví M
Hum Mutat; 2004 Aug; 24(2):187. PubMed ID: 15241806
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. [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]
11. 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]
12. An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.
Rabacchi C; Wunsch A; Ghisellini M; Marino M; Pisciotta L; Bertolini S; Calandra S
Clin Chim Acta; 2009 Aug; 406(1-2):75-80. PubMed ID: 19467224
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [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]
15. Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW; Kastelein JJ; Defesche JC
Hum Mutat; 2005 Dec; 26(6):550-6. PubMed ID: 16250003
[TBL] [Abstract][Full Text] [Related]
16. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
Cheng XH; Zheng F; Zhou X; Xiong CL; Ding J; Chen YM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
Kulseth MA; Berge KE; Bogsrud MP; Leren TP
J Hum Genet; 2010 Oct; 55(10):676-80. PubMed ID: 20703241
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.
Mozas P; Cenarro A; Civeira F; Castillo S; Ros E; Pocovi M
Hum Mutat; 2000 May; 15(5):483-4. PubMed ID: 10790219
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]