Artigo Acesso aberto Revisado por pares

Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

1998; Wiley; Volume: 11; Issue: S1 Linguagem: Inglês

10.1002/humu.1380110173

ISSN

1098-1004

Autores

Patrick Couture, Marie‐Claude Vohl, Claude Gagné, Daniel Gaudet, Ana Lucía Torres, Paul J. Lupien, Jean‐Pierre Després, Fernand Labrie, Jacques Simard, Sital Moorjani,

Tópico(s)

Systemic Lupus Erythematosus Research

Resumo

Human MutationVolume 11, Issue S1 p. S226-S231 Mutation in BriefFree Access Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians Patrick Couture, Patrick Couture Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec, G1V 4G2, Canada; Fax: (418) 654-2761Search for more papers by this authorMarie-Claude Vohl, Marie-Claude Vohl Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorClaude Gagné, Claude Gagné Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorDaniel Gaudet, Daniel Gaudet Chicoutimi Hospital Lipid Clinic, Chicoutimi, Quebec, CanadaSearch for more papers by this authorAna L. Torres, Ana L. Torres Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorPaul J. Lupien, Paul J. Lupien Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorJean-Pierre Després, Jean-Pierre Després Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorFernand Labrie, Fernand Labrie Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec, G1V 4G2, Canada; Fax: (418) 654-2761Search for more papers by this authorDr. Jacques Simard, Corresponding Author Dr. Jacques Simard Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec, G1V 4G2, Canada; Fax: (418) 654-2761Laboratory of Molecular Endocrinology, CHUL Research Center, 2705 Laurier Blvd., Quebec, G1V 4G2, CanadaSearch for more papers by this authorSital Moorjani, Sital Moorjani Lipid Research Center, CHUL Research Center and Laval University, Quebec, Canada Dr. Moorjani is deceased, as of October 1, 1995Search for more papers by this author Patrick Couture, Patrick Couture Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec, G1V 4G2, Canada; Fax: (418) 654-2761Search for more papers by this authorMarie-Claude Vohl, Marie-Claude Vohl Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorClaude Gagné, Claude Gagné Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorDaniel Gaudet, Daniel Gaudet Chicoutimi Hospital Lipid Clinic, Chicoutimi, Quebec, CanadaSearch for more papers by this authorAna L. Torres, Ana L. Torres Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorPaul J. Lupien, Paul J. Lupien Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorJean-Pierre Després, Jean-Pierre Després Lipid Research Center, CHUL Research Center and Laval University, Quebec, CanadaSearch for more papers by this authorFernand Labrie, Fernand Labrie Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec, G1V 4G2, Canada; Fax: (418) 654-2761Search for more papers by this authorDr. Jacques Simard, Corresponding Author Dr. Jacques Simard Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec, G1V 4G2, Canada; Fax: (418) 654-2761Laboratory of Molecular Endocrinology, CHUL Research Center, 2705 Laurier Blvd., Quebec, G1V 4G2, CanadaSearch for more papers by this authorSital Moorjani, Sital Moorjani Lipid Research Center, CHUL Research Center and Laval University, Quebec, Canada Dr. Moorjani is deceased, as of October 1, 1995Search for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110173Citations: 23 AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Bieri S, Djordjevic JT, Daly NL, Smith R, Kroon PA (1995) Disulfide bridges of a cysteine -rich repeat of the LDL receptor ligand-binding domain. Biochemistry 34: 13059– 13065. Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78: 151– 155. Goldstein JL, Brown MS (1989) Familial hypercholesterolemia. In CR Scriver, AL Beaudet, WS Sly, D Valle (eds): The Metabolic Basis of Inherited Diseases. New York: McGraw-Hill, pp 1215– 1250. Hansen PS, Rudiger N, Tybjaerg-Hansen A, Faergeman O, Gregersen N (1991) Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J Lipid Res 32: 1229– 1233. Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1: 445– 466. Mehta KD, Chen WJ, Goldstein JL, Brown MS (1991) The low density lipoprotein receptor in Xenopus laevis. I. Five domains that resemble the human receptor. J Biol Chem 266: 10406– 10414. Moorjani S, Roy M, Gagné C, Davignon J, Brun D, Toussaint M, Lambert M, Campeau L, Blaichman S, Lupien P (1989) Homozygous familial hypercholesterolemia among French Canadians in Quebec Province. Arteriosclerosis 9: 211– 216. Simard J, Moorjani S, Vohl MC, Couture P, Torres AL, Gagné C, Després JP, Labrie F, Lupien PJ (1994) Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mol Genet 3: 1689– 1691. Solberg K, Rodningen OK, Tonstad S, Ose L, Leren TP (1994) Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene. Scand J Clin Lab Invest 54: 605– 609. Soria L, Ludwig E, Clarke H, Vega G, Grundy S, McCarthy B (1989) Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 86: 587– 591. Yamamoto T, Bishop RW Brown MS, Goldstein JL, Russell DW (1986) Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit. Science 232: 1230– 1237. Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein JL, Russell DW (1984) The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39: 27– 38. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S226-S231 ReferencesRelatedInformation

Referência(s)
Altmetric
PlumX