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Mutation −59c→t in Repeat 2 of the LDL Receptor Promoter: Reduction in Transcriptional Activity and Possible Allelic Interaction in a South African Family with Familial Hypercholesterolaemia

Human molecular genetics, 1999-10, Vol.8 (11), p.2025-2030

1999

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Genetics in family practice : preventing organ damage by genetic testing for hereditary haemochromatosis

South African family practice, 2005-03, Vol.47 (2), p.44-45

2005

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Autoantibodies against nucleolar structures correlate significantly with an unusual association between multiple sclerosis and porphyria symptoms

Journal of neuroimmunology, 1998-09, Vol.90 (1), p.77-77

1998

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Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

Molecular and cellular probes, 2003-08, Vol.17 (4), p.175-181

2003

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Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation

Molecular and cellular probes, 2001-08, Vol.15 (4), p.217-221

2001

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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

Molecular and cellular probes, 1998-10, Vol.12 (5), p.293-300

1998

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Mutation −59c→t in Repeat 2 of the LDL Receptor Promoter: Reduction in Transcriptional Activity and Possible Allelic Interaction in a South African Family with Familial Hypercholesterolaemia

Genetics in family practice : preventing organ damage by genetic testing for hereditary haemochromatosis

Autoantibodies against nucleolar structures correlate significantly with an unusual association between multiple sclerosis and porphyria symptoms

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation

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

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