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Results: 1-12 |
Results: 12
Analysis of the NRAMP1 gene implicated in iron transport: Association withmultiple sclerosis and age effects
Authors: Kotze, MJ de Villiers, JNP Rooney, RN Grobbelaar, JJ Mansvelt, EPG Bouwens, CSH Carr, J Stander, I du Plessis, L
Citation: Mj. Kotze et al., Analysis of the NRAMP1 gene implicated in iron transport: Association withmultiple sclerosis and age effects, BL CELL M D, 27(1), 2001, pp. 44-53
Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation
Authors: Warnich, L Waso, HFJ Groenewald, IM Bester, AE de Villiers, JNP Kotze, MJ Lynch, AG Louw, JH
Citation: L. Warnich et al., Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation, MOL CELL PR, 15(4), 2001, pp. 217-221
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
Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis
Authors: de Villiers, JNP Kotze, MJ
Citation: Jnp. De Villiers et Mj. Kotze, Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis, BL CELL M D, 25(15), 1999, pp. 250-252
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria (vol 8, pg 1517, 1999)
Authors: de Villiers, JNP Hillerman, R Loubser, L Kotze, MJ
Citation: Jnp. De Villiers et al., Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria (vol 8, pg 1517, 1999), HUM MOL GEN, 8(9), 1999, pp. 1817-1817
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria
Authors: de Villiers, JNP Hillermann, R Loubser, L Kotze, MJ
Citation: Jnp. De Villiers et al., Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria, HUM MOL GEN, 8(8), 1999, pp. 1517-1522
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
High prevalence of the Cys282Tyr HFE mutation facilitates and improved diagnostic service for hereditary haemochromatosis in South Africa
Authors: de Villiers, JNP Hillerman, R de Jong, G Langenhoven, E Rossouw, H Marx, MP Kotze, MJ
Citation: Jnp. De Villiers et al., High prevalence of the Cys282Tyr HFE mutation facilitates and improved diagnostic service for hereditary haemochromatosis in South Africa, S AFR MED J, 89(3), 1999, pp. 279-282
Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent
Authors: Rooney, RN Kotze, MJ de Villiers, JNP Hillermann, R Cohen, JA
Citation: Rn. Rooney et al., Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent, AM J MED G, 86(2), 1999, pp. 194-196
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
Risultati: 1-12 |