Day, INM; Whittall, RA; ODell, SD; Haddad, L; Bolla, MK; Gudnason, V; Humphries, SE; (1997) Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. HUM MUTAT , 10 (2) 116 - 127.
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Familial hypercholesterolemia by usual definition reflects mutations of the LDL-receptor gene. Extensive molecular characterization of mutations ascertained mainly through. homozygotes (the Dallas collection) has been presented by Hobbs et al. (Hum Mutat 1:445-466, 1992). This paper catalogues a spectrum of 134 mutations (27 novel mutations in 45 patients, 24 previously described mutations in 89 patients) ascertained through heterozygotes from the analysis of 791 patients with definite, probable, or possible FH, mainly from the UK, using high throughput modifications of the single-strand conformation polymorphism technique. From a composite database of LDL receptor gene mutations compiled from these two sets and from the literature, deductions are made about ascertainment bias, mutation rates, and molecular heterogeneity. Calculations suggest that there may be a large number of rare amino acid variants in the general population not causing classic FH. Approaches to, and feasibility of, molecular diagnostics are considered. (C) 1997 Wiley-Liss, Inc.
|Title:||Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia|
|Keywords:||single-strand conformational polymorphism, LDL-receptor, familial hypercholesterolemia, DENSITY-LIPOPROTEIN-RECEPTOR, DIAGONAL GEL-ELECTROPHORESIS, BASE-PAIR SUBSTITUTIONS, POINT MUTATIONS, MOLECULAR-GENETICS, UNITED-KINGDOM, LIPID LEVELS, IDENTIFICATION, DNA, CHOLESTEROL|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science|
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