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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
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
15 results