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Kari Solberg

University of Oslo

11

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204

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Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia

2008 Clinical Genetics
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Mspl RFLP in exon 18 of the LDL receptor gene detectable by PCR

2008 Clinical Genetics
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A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects

2008 Clinical Genetics
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A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.

1996 Human Mutation
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Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia

1995 Human Genetics
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Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia

1995 Human Genetics
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Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects

1994 Atherosclerosis
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Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene

1994 Scandinavian Journal of Clinical & Laboratory Investigation
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Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation — FH469→Stop

1993 Human Genetics
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Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene.

1993 Genome Research
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