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Results: 1-7 |
Results: 7
Prenatal diagnosis of familial hypercholesterolemia: Importance of DNA analysis in the high-risk South African population
Authors: Vergotine, J Thiart, R Langenhoven, E Hillermann, R De Jong, G Kotze, MJ
Citation: J. Vergotine et al., Prenatal diagnosis of familial hypercholesterolemia: Importance of DNA analysis in the high-risk South African population, GEN COUNSEL, 12(2), 2001, pp. 121-127
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia
Authors: Thiart, R Varret, M Lintott, CJ Scott, RS Loubser, O du Plessis, L de Villiers, JNP Boileau, C Kotze, MJ
Citation: R. Thiart et al., Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia, MOL CELL PR, 14(5), 2000, pp. 299-304
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
Authors: Thiart, R Scholtz, CL Vergotine, J Hoogendijk, CF de Villiers, JNP Nissen, H Brusgaard, K Gaffney, D Hoffs, MS Vermaak, WJH Kotze, MJ
Citation: R. Thiart et al., Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia, J MED GENET, 37(7), 2000, pp. 514-519
Mutation-59c -> t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South Africanfamily with familial hypercholesterolaemia
Authors: Scholtz, CL Peeters, AV Hoogendijk, CF Thiart, R de Villiers, JNP Hillermann, R Liu, JW Marais, AD Kotze, MJ
Citation: Cl. Scholtz et al., Mutation-59c -> t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South Africanfamily with familial hypercholesterolaemia, HUM MOL GEN, 8(11), 1999, pp. 2025-2030
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene
Authors: Peeters, AV Thiart, R de Villiers, JNP Jensen, HK Van Gaal, LF Kotze, MJ
Citation: Av. Peeters et al., Intronic mutations at splice junctions in the low-density lipoprotein receptor gene, MOL CELL PR, 13(4), 1999, pp. 257-260
Founder mutations in the LDL receptor gene contribute significantly to thefamilial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry
Authors: Loubser, O Marais, AD Kotze, MJ Godenir, N Thiart, R Scholtz, CL de Villiers, JNP Hillermann, R Firth, JC Weich, HFH Maritz, F Jones, S van der Westhuyzen, DR
Citation: O. Loubser et al., Founder mutations in the LDL receptor gene contribute significantly to thefamilial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry, CLIN GENET, 55(5), 1999, pp. 340-345
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32
Authors: Varret, M Rabes, JP Saint-Jore, B Cenarro, A Marinoni, JC Civeira, F Devillers, M Krempf, M Coulon, M Thiart, R Kotze, MJ Schmidt, H Buzzi, JC Kostner, GM Bertolini, S Pocovi, M Rosa, A Farnier, M Martinez, M Junien, C Boileau, C
Citation: M. Varret et al., A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32, AM J HU GEN, 64(5), 1999, pp. 1378-1387
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