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Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia

Journal of medical genetics, 2000-07, Vol.37 (7), p.514-519

2000

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Cardiovascular genetic assessment and treatment in middle age to reduce the risk of heart disease and dementia in old age

South African family practice, 2006-05, Vol.48 (4), p.53-54

2006

Volltextzugriff (PDF)

The UMD‐LDLR database: additions to the software and 490 new entries to the database

Human mutation, 2002-08, Vol.20 (2), p.81-87

2002

Volltextzugriff (PDF)

First report of CFTR mutations in black cystic fibrosis patients of southern African origin

Journal of medical genetics, 1996-09, Vol.33 (9), p.802-804

1996

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A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

American journal of human genetics, 1999-05, Vol.64 (5), p.1378-1387

1999

Volltextzugriff (PDF)

Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics

Molecular and cellular probes, 2001-12, Vol.15 (6), p.329-336

2001

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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

Volltextzugriff (PDF)

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia

Molecular and cellular probes, 2000-10, Vol.14 (5), p.299-304

2000

Volltextzugriff (PDF)

Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population

Genetic counseling, 2001, Vol.12 (2), p.121

2001

Volltextzugriff (PDF)

Intronic mutations at splice junctions in the low-density lipoprotein receptor gene

Molecular and cellular probes, 1999-08, Vol.13 (4), p.257-260

1999

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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

Volltextzugriff (PDF)

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Nucleic acids research, 1998-01, Vol.26 (1), p.248

1998

Volltextzugriff (PDF)

Cardiovascular genetic assessment and treatment in middle age to reduce the risk of heart disease and dementia in old age : review article

South African family practice, 2006-05, Vol.48 (4), p.53-54

2006

Volltextzugriff (PDF)

Heterogeneous distribution of two common MTHFR gene mutations in the diverse south African population correlates significantly with ethnic differences in cardiovascular disease risk

Atherosclerosis, 1999-05, Vol.144, p.137-137

1999

Volltextzugriff (PDF)

Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population

South African medical journal, 2001-12, Vol.91 (12), p.1053-1059

2001

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Analysis of two mutations in the mthfr gene associated with mild hyperhomocysteinaemia: Heterogeneous distribution in the South African population

South African medical journal, 2002-06, Vol.92 (6), p.464-467

2002

Volltextzugriff (PDF)

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

Clinical genetics, 1999-05, Vol.55 (5), p.340-345

1999

Volltextzugriff (PDF)

Mutation -59c arrow right 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

Volltextzugriff (PDF)

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

Clinical genetics, 1997-06, Vol.51 (6), p.394-398

1997

Volltextzugriff (PDF)

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

Human genetics, 1997-07, Vol.100 (1), p.101-103

1997

Volltextzugriff (PDF)

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote

Atherosclerosis, 1996-08, Vol.125 (1), p.111-119

1996

Volltextzugriff (PDF)

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

Human mutation, 1998, Vol.11 (S1), p.S232-S233

1998

Volltextzugriff (PDF)

Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations

Molecular and cellular probes, 1998-06, Vol.12 (3), p.149-152

1998

Volltextzugriff (PDF)

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

Molecular and cellular probes, 1997-12, Vol.11 (6), p.457-458

1997

Volltextzugriff (PDF)

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Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia

Cardiovascular genetic assessment and treatment in middle age to reduce the risk of heart disease and dementia in old age

The UMD‐LDLR database: additions to the software and 490 new entries to the database

First report of CFTR mutations in black cystic fibrosis patients of southern African origin

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics

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

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia

Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population

Intronic mutations at splice junctions in the low-density lipoprotein receptor gene

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

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Cardiovascular genetic assessment and treatment in middle age to reduce the risk of heart disease and dementia in old age : review article

Heterogeneous distribution of two common MTHFR gene mutations in the diverse south African population correlates significantly with ethnic differences in cardiovascular disease risk

Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population

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

Analysis of two mutations in the mthfr gene associated with mild hyperhomocysteinaemia: Heterogeneous distribution in the South African population

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

Mutation -59c arrow right 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

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

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

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote

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

Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

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