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Scandinavian Journal of Clinical and Laboratory Investigation Volume 54, 1994 - Issue 8

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Original Article

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

K. Solberg Department of Medical genetics, Ullevål University Hospital, Oslo, Norway

O. K. Rødningen Department of Medical genetics, Ullevål University Hospital, Oslo, Norway

S. Tonstad Lipid Clinic, Rikshospitalet, Oslo, Norway

L. Ose Lipid Clinic, Rikshospitalet, Oslo, Norway

T. P. Leren Department of Medical genetics, Ullevål University Hospital, Oslo, Norway

Pages 605-609 | Received 25 Mar 1994, Accepted 08 Jul 1994, Published online: 08 Jul 2009

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https://doi.org/10.3109/00365519409087539

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Gabrielle Roy, Patrick Couture, Jacques Genest, Isabelle Ruel, Alexis Baass, Jean Bergeron, Diane Brisson, Liam R. Brunham, Lubomira Cermakova, Daniel Gaudet, Etienne Khoury, Nathalie Laflamme, Brooke A. Kennedy, Robert A. Hegele & Jean-Philippe Drouin-Chartier. (2022) Influence of the LDL-Receptor Genotype on Statin Response in Heterozygous Familial Hypercholesterolemia: Insights From the Canadian FH Registry. Canadian Journal of Cardiology 38:3, pages 311-319.
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Ilze Radovica-Spalvina, Gustavs Latkovskis, Ivars Silamikelis, Davids Fridmanis, Ilze Elbere, Karlis Ventins, Guna Ozola, Andrejs Erglis & Janis Klovins. (2015) Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population. BMC Medical Genetics 16:1.
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L. Haddad, I.N.M. Day, S. Hunt, R.R. Williams, S.E. Humphries & P.N. Hopkins. (1999) Evidence for a third genetic locus causing familial hypercholesterolemia: a non-LDLR, non-APOB kindred. Journal of Lipid Research 40:6, pages 1113-1122.
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Olaug K. R�dningen, Serena Tonstad, Ola Didrik Saugstad, Leiv Ose & Trond P. Leren. (1999) Mutant transcripts of the LDL receptor gene: mRNA structure and quantity. Human Mutation 13:3, pages 186-196.
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Rochelle Thiart, Odell Loubser, J. Nico P. de Villiers, Munro P. Marx, Reinhardt Zaire, Frederick J. Raal & Maritha J. Kotze. (1998) Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. Human Mutation 11:S1, pages S232-S233.
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Patrick Couture, Marie-Claude Vohl, Claude Gagné, Daniel Gaudet, Ana L. Torres, Paul J. Lupien, Jean-Pierre Després, Fernand Labrie, Jacques Simard & Sital Moorjani. (1998) Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Human Mutation 11:S1, pages S226-S231.
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M. Varret, J.-P. Rabes, G. Collod-Beroud, C. Junien, C. Boileau & C. Beroud. (1997) Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Research 25:1, pages 172-180.
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INM Day, RA Whittall, SD O'Dell, L Haddad, MK Bolla, V Gudnason & SE Humphries. (1997) Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. Human Mutation 10:2, pages 116-127.
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S D O'Dell, S E Humphries & I N Day. (1996) PCR induction of a TaqI restriction site at any CpG dinucleotide using two mismatched primers (CpG-PCR).. Genome Research 6:6, pages 558-568.
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J C Webb, X M Sun, S N McCarthy, C Neuwirth, G R Thompson, B L Knight & A K Soutar. (1996) Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. Journal of Lipid Research 37:2, pages 368-381.
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Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene

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

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