Loubser O - Search Results

1

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene.

Kotze MJ, Thiart R, Loubser O, de Villiers JN, Santos M, Vargas MA, Peeters AV. Kotze MJ, et al. Among authors: loubser o. Hum Genet. 1996 Oct;98(4):476-8. doi: 10.1007/s004390050242. Hum Genet. 1996. PMID: 8792825

2

Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

Theart L, Kotze MJ, Langenhoven E, Loubser O, Peeters AV, Lintott CJ, Scott RS. Theart L, et al. Among authors: loubser o. J Med Genet. 1995 May;32(5):379-82. doi: 10.1136/jmg.32.5.379. J Med Genet. 1995. PMID: 7616546 Free PMC article.

3

Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners.

Kotze MJ, Langenhoven E, Theart L, Loubser O, Micklem A, Oosthuizen CJ. Kotze MJ, et al. Among authors: loubser o. S Afr Med J. 1995 May;85(5):357-61. S Afr Med J. 1995. PMID: 7638684

4

A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.

Kotze MJ, de Villiers JN, Loubser O, Thiart R, Scholtz CL, Raal FJ. Kotze MJ, et al. Among authors: loubser o. Hum Genet. 1997 Jul;100(1):101-3. doi: 10.1007/s004390050473. Hum Genet. 1997. PMID: 9225977

5

CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.

Kotze MJ, Loubser O, Thiart R, de Villiers JN, Langenhoven E, Theart L, Steyn K, Marais AD, Raal FJ. Kotze MJ, et al. Among authors: loubser o. Clin Genet. 1997 Jun;51(6):394-8. doi: 10.1111/j.1399-0004.1997.tb02497.x. Clin Genet. 1997. PMID: 9237502

6

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.

Thiart R, Loubser O, de Villiers JN, Marx MP, Zaire R, Raal FJ, Kotze MJ. Thiart R, et al. Among authors: loubser o. Hum Mutat. 1998;Suppl 1:S232-3. doi: 10.1002/humu.1380110174. Hum Mutat. 1998. PMID: 9452095 No abstract available.

7

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.

Thiart R, Loubser O, de Villiers JN, Santos M, Kotze MJ. Thiart R, et al. Among authors: loubser o. Mol Cell Probes. 1997 Dec;11(6):457-8. doi: 10.1006/mcpr.1997.0134. Mol Cell Probes. 1997. PMID: 9500809

8

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.

Kotze MJ, Peeters AV, Loubser O, Theart L, du Plessis L, Hayes VM, de Jong G, de Villiers JN, Lombard CJ, Hansen PS, Raal FJ. Kotze MJ, et al. Among authors: loubser o. Clin Genet. 1998 Jul;54(1):74-8. doi: 10.1111/j.1399-0004.1998.tb03698.x. Clin Genet. 1998. PMID: 9727745

9

Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families.

Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L. Kotze MJ, et al. Among authors: loubser o. Mol Cell Probes. 1998 Oct;12(5):293-300. doi: 10.1006/mcpr.1998.0188. Mol Cell Probes. 1998. PMID: 9778454

10

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

Loubser O, Marais AD, Kotze MJ, Godenir N, Thiart R, Scholtz CL, de Villiers JN, Hillermann R, Firth JC, Weich HF, Maritz F, Jones S, van der Westhuyzen DR. Loubser O, et al. Clin Genet. 1999 May;55(5):340-5. doi: 10.1034/j.1399-0004.1999.550507.x. Clin Genet. 1999. PMID: 10422804

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