170 related articles for article (PubMed ID: 7649549)
1. Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
Pereira E; Ferreira R; Hermelin B; Thomas G; Bernard C; Bertrand V; Nassiff H; Mendez del Castillo D; Bereziat G; Benlian P
Hum Genet; 1995 Sep; 96(3):319-22. PubMed ID: 7649549
[TBL] [Abstract][Full Text] [Related]
2. Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.
Torres AL; Moorjani S; Vohl MC; Gagné C; Lamarche B; Brun LD; Lupien PJ; Després JP
Atherosclerosis; 1996 Sep; 126(1):163-71. PubMed ID: 8879444
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.
Kotze MJ; De Villiers WJ; Steyn K; Kriek JA; Marais AD; Langenhoven E; Herbert JS; Graadt Van Roggen JF; Van der Westhuyzen DR; Coetzee GA
Arterioscler Thromb; 1993 Oct; 13(10):1460-8. PubMed ID: 8399083
[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. [DNA analysis in heterozygotes in familial hypercholesterolemia].
Horínek A; Slézka V; Sobra J; Ceska R
Cas Lek Cesk; 1995 Apr; 134(8):234-9. PubMed ID: 7758080
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. 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]
8. South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.
Defesche JC; van Diermen DE; Lansberg PJ; Lamping RJ; Reymer PW; Hayden MR; Kastelein JJ
Hum Genet; 1993 Dec; 92(6):567-70. PubMed ID: 7903269
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
Rabacchi C; Bigazzi F; Puntoni M; Sbrana F; Sampietro T; Tarugi P; Bertolini S; Calandra S
J Clin Lipidol; 2016; 10(4):944-952.e1. PubMed ID: 27578127
[TBL] [Abstract][Full Text] [Related]
10. Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.
Ajmal M; Ahmed W; Sadeque A; Ali SH; Bokhari SH; Ahmed N; Qamar R
Mol Biol Rep; 2010 Dec; 37(8):3869-75. PubMed ID: 20217239
[TBL] [Abstract][Full Text] [Related]
11. FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia.
Graadt van Roggen JF; van der Westhuyzen DR; Coetzee GA; Marais AD; Steyn K; Langenhoven E; Kotze MJ
Arterioscler Thromb Vasc Biol; 1995 Jun; 15(6):765-72. PubMed ID: 7773731
[TBL] [Abstract][Full Text] [Related]
12. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.
Steyn K; Goldberg YP; Kotze MJ; Steyn M; Swanepoel AS; Fourie JM; Coetzee GA; Van der Westhuyzen DR
Hum Genet; 1996 Oct; 98(4):479-84. PubMed ID: 8792826
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
Slimani A; Jelassi A; Jguirim I; Najah M; Rebhi L; Omezzine A; Maatouk F; Hamda KB; Kacem M; Rabès JP; Abifadel M; Boileau C; Rouis M; Slimane MN; Varret M
Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
[TBL] [Abstract][Full Text] [Related]
15. Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.
Shin JA; Kim SH; Kim UK; Chae JJ; Choe SJ; Namkoong Y; Kim HS; Park YB; Lee CC
Clin Genet; 2000 Mar; 57(3):225-9. PubMed ID: 10782930
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.
Pimstone SN; Sun XM; du Souich C; Frohlich JJ; Hayden MR; Soutar AK
Arterioscler Thromb Vasc Biol; 1998 Feb; 18(2):309-15. PubMed ID: 9484998
[TBL] [Abstract][Full Text] [Related]
17. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
Al-Allaf FA; Alashwal A; Abduljaleel Z; Taher MM; Bouazzaoui A; Abalkhail H; Al-Allaf AF; Athar M
Acta Biochim Pol; 2017; 64(1):75-79. PubMed ID: 27878139
[TBL] [Abstract][Full Text] [Related]
18. Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.
Thiart R; Varret M; Lintott CJ; Scott RS; Loubser O; du Plessis L; de Villiers JN; Boileau C; Kotze MJ
Mol Cell Probes; 2000 Oct; 14(5):299-304. PubMed ID: 11040093
[TBL] [Abstract][Full Text] [Related]
19. Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.
Slimane MN; Lestavel S; Sun X; Maatouk F; Soutar AK; Ben Farhat MH; Clavey V; Benlian P; Hammami M
Atherosclerosis; 2001 Feb; 154(3):557-65. PubMed ID: 11257256
[TBL] [Abstract][Full Text] [Related]
20. Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.
Webb JC; Sun XM; McCarthy SN; Neuwirth C; Thompson GR; Knight BL; Soutar AK
J Lipid Res; 1996 Feb; 37(2):368-81. PubMed ID: 9026534
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
