{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T07:04:52Z","timestamp":1762067092263},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1989,8,1]],"date-time":"1989-08-01T00:00:00Z","timestamp":617932800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1989,8]]},"DOI":"10.1007\/bf00274151","type":"journal-article","created":{"date-parts":[[2004,10,6]],"date-time":"2004-10-06T06:58:46Z","timestamp":1097045926000},"page":"67-70","source":"Crossref","is-referenced-by-count":3,"title":["Multiple mutations underlying familial hypercholesterolemia in the South African population"],"prefix":"10.1007","volume":"83","author":[{"given":"Howard E.","family":"Henderson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maritha J.","family":"Kotze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Michael B.","family":"Berger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1126\/science.3513311","volume":"232","author":"MS Brown","year":"1986","unstructured":"Brown MS, Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis. Science 232:34?47","journal-title":"Science"},{"key":"CR2","first-page":"95","volume-title":"South Africa","author":"MM Cole","year":"1966","unstructured":"Cole MM (1966) South Africa. Methuen & Co, London, pp 95?100"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/316079a0","volume":"316","author":"DW Cox","year":"1985","unstructured":"Cox DW, Woo SLC, Mansfield T (1985) DNA restriction fragments associated with ?-antitrypsin indicate a single origin for deficiency allele PIZ. Nature 316:79?81","journal-title":"Nature"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"4075","DOI":"10.1016\/S0021-9258(18)61313-4","volume":"262","author":"GC Davis","year":"1987","unstructured":"Davis GC, Driel IR van, Russell DW, Brown MS, Goldstein JL (1987a) The low-density lipoprotein receptor: identification of amino acids in cytoplasmic domain required for rapid endocytosis. J Biol Chem 262:4075?4082","journal-title":"J Biol Chem"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1038\/326760a0","volume":"326","author":"GC Davis","year":"1987","unstructured":"Davis GC, Goldstein JL, Sudhof TC, Anderson RGW, Russell DW, Brown MS (1987b) Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region. Nature 326:760?765","journal-title":"Nature"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/327333a0","volume":"327","author":"AG DiLella","year":"1987","unstructured":"DiLella AG, Marvit J, Brayton K, Woo SLE (1987) An amino acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333?336","journal-title":"Nature"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"13282","DOI":"10.1016\/S0021-9258(18)37702-0","volume":"263","author":"V Esser","year":"1988","unstructured":"Esser V, Limbird LE, Brown MS, Goldstein JL, Russell DW (1988) Mutational analysis of the ligand-binding domain of the low-density lipoprotein receptor. J Biol Chem 263:13282?13290","journal-title":"J Biol Chem"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1042\/bj2550411","volume":"255","author":"AM Fourie","year":"1988","unstructured":"Fourie AM, Coetzee GA, Gevers W, Westhuyzen DR van der (1988) Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity. Biochem J 255:411?415","journal-title":"Biochem J"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"7820","DOI":"10.1093\/nar\/14.19.7820","volume":"14","author":"H Funke","year":"1986","unstructured":"Funke H, Klug J, Frossard P, Coleman R, Assman G (1986) PstI RFLP close to the LDL receptor gene. Nucleic Acids Res 14:7820","journal-title":"Nucleic Acids Res"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"3943","DOI":"10.1093\/nar\/15.9.3943","volume":"9","author":"J Geisel","year":"1987","unstructured":"Geisel J, Weishaar B, Oette K, Mechtel M, Doerfler W (1987) Double MspI RFLP in the human LDL receptor gene. Nucleic Acids Res 9:3943","journal-title":"Nucleic Acids Res"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1007\/BF00273653","volume":"80","author":"HE Henderson","year":"1988","unstructured":"Henderson HE, Berger GMB, Marais AD (1988) A new LDL receptor gene deletion mutation in the South African population. Hum Genet 80:371?374","journal-title":"Hum Genet"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/nar\/15.1.379","volume":"15","author":"HH Hobbs","year":"1987","unstructured":"Hobbs HH, Esser V, Russell DW (1987) AvaII polymorphism in the human LDL receptor gene. Nucleic Acids Res 15:379","journal-title":"Nucleic Acids Res"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/S0140-6736(85)91611-3","volume":"I","author":"SE Humphries","year":"1985","unstructured":"Humphries SE, Horsthemke B, Seed M, Heim M, Wynn V, Kessling AM, Donald JA, Jowett N, Galton DJ, Williamson R (1985) A common DNA polymorphism of the low density lipoprotein (LDL) receptor gene and its use in diagnosis. Lancet I:1003?1005","journal-title":"Lancet"},{"key":"CR14","first-page":"77","volume":"70","author":"MJ Kotze","year":"1986","unstructured":"Kotze MJ, Retief AE, Brink PA, Weich HFH (1986) A DNA polymorphism in the human low density lipoprotein receptor gene. S Afr Med J 70:77?79","journal-title":"S Afr Med J"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1093\/nar\/15.1.376","volume":"15","author":"MJ Kotze","year":"1987","unstructured":"Kotze MJ, Langenhoven E, Dietzsch E, Retief AE (1987) A RFLP associated with the low density lipoprotein receptor gene. Nucleic Acids Res 15:376","journal-title":"Nucleic Acids Res"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"2782","DOI":"10.1093\/nar\/15.6.2782","volume":"15","author":"E Leitersdorf","year":"1987","unstructured":"Leitersdorf E, Hobbs HH (1987) Human LDL receptor gene: two ApaLI RFLPs. Nucleic Acids Res 15:2782","journal-title":"Nucleic Acids Res"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"7912","DOI":"10.1073\/pnas.85.21.7912","volume":"85","author":"E Leitersdorf","year":"1988","unstructured":"Leitersdorf E, Hobbs HH, Fourie A, Jacobs M, Westhuyzen DR van der, Coetzee GA (1988) Detetion in first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in subject with familial hypercholesterolaemia. Proc Natl Acad Sci USA 85:7912?7916","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/BF00291733","volume":"78","author":"U Lichter-Konecki","year":"1988","unstructured":"Lichter-Konecki U, Schlotter M, Konecki DS, Labeit S, Woo SLC, Trez FK (1988) Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum Genet 78:347?352","journal-title":"Hum Genet"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1146\/annurev.ge.18.120184.001023","volume":"18","author":"SH Orkin","year":"1984","unstructured":"Orkin SH, Kazazian Jr HH (1984) The mutation and polymorphism of the human ?-globulin gene and its surrounding DNA. Annu Rev Genet 18:131?171","journal-title":"Annu Rev Genet"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3109\/03630268208996930","volume":"6","author":"M Ponez","year":"1982","unstructured":"Ponez M, Solowiejezyk D, Harpel B, Morey Y, Schwartz E, Surrey S (1982) Construction of gene libraries from small amounts of peripheral blood: analysis of alpha-like globin genes. Hemoglobin 6:27?36","journal-title":"Hemoglobin"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1101\/SQB.1986.051.01.094","volume":"51","author":"DW Russell","year":"1986","unstructured":"Russell DW, Lehrman MA, Sudhof TC, Yamamoto T, Davis CG, Hobbs HH, Brown MS, Goldstein JL (1986) The LDL receptor in familial hypercholesterolaemia: use of human mutations to disect a membrane protein. Cold Spring Harbor Symp Quant Biol 51: 811?819","journal-title":"Cold Spring Harbor Symp Quant Biol"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/bmj.281.6241.633","volume":"281","author":"HC Seftel","year":"1980","unstructured":"Seftel HC, Baker SG, Sandler MP, Forman MB, Joffe BI, Mendleson D, Jenkins T, Mieny CJ (1980) A host of hypercholesterolaemic homozygotes in South Africa. Br Med J 281:623?636","journal-title":"Br Med J"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","volume":"98","author":"EM Southern","year":"1975","unstructured":"Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503?517","journal-title":"J Mol Biol"},{"key":"CR24","doi-asserted-by":"crossref","first-page":"4702","DOI":"10.1093\/nar\/15.11.4702","volume":"11","author":"LT Steyn","year":"1987","unstructured":"Steyn LT, Pretorius A, Brink PA, Bester AJ (1987) RFLP for the human LDL receptor gene (LDLR): BstEII. Nucleic Acids Res 11:4702","journal-title":"Nucleic Acids Res"},{"key":"CR25","first-page":"762","volume":"85","author":"M Torrington","year":"1984","unstructured":"Torrington M, Botha JL, Pilcher GJ, Baker SG (1984) Association between familial hypercholesterolaemia and church affiliation: is this the result of sociocultural isolation of migrant farmers in 19th century South Africa. S Afr Med J 85:762?767","journal-title":"S Afr Med J"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/319491a0","volume":"319","author":"JS Wainscoat","year":"1986","unstructured":"Wainscoat JS, Hill AVS, Boyce AL, Flint J, Hernandez M, Thein SL, Old JM, Lynch JR, Falusi AG, Weatherall DJ, Clegg JB (1986) Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature 319:491?493","journal-title":"Nature"},{"key":"CR27","doi-asserted-by":"crossref","first-page":"6529","DOI":"10.1073\/pnas.83.17.6529","volume":"83","author":"C Wong","year":"1986","unstructured":"Wong C, Antonarakis SE, Goff SC, Orkin SH, Boehmn CD, Kazazian Jr HH (1986) On the origin and spread of ?-thalassaemia: recurrent observation of four mutations in different ethnic groups. Proc Natl Acad Sci USA 83:6529?6532","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR28","doi-asserted-by":"crossref","first-page":"7659","DOI":"10.1093\/nar\/15.18.7659","volume":"15","author":"K Yamakawa","year":"1987","unstructured":"Yamakawa K, Okafuji T, Iwamura Y, Russell DW, Hamaguchi H (1987) TaqI polymorphism in the human LDL receptor gene. Nucleic Acids Res 15:7659","journal-title":"Nucleic Acids Res"},{"key":"CR29","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/324380a0","volume":"324","author":"H Youssoufian","year":"1986","unstructured":"Youssoufian H, Kazazian Jr HH, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 324:380?392","journal-title":"Nature"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00274151.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00274151\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00274151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,26]],"date-time":"2021-06-26T06:49:05Z","timestamp":1624690145000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00274151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,8]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1989,8]]}},"alternative-id":["BF00274151"],"URL":"https:\/\/doi.org\/10.1007\/bf00274151","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,8]]}}}