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Results: 1-8 |
Results: 8
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom
Authors: Heath, KE Humphries, SE Middleton-Price, H Boxer, M
Citation: Ke. Heath et al., A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom, EUR J HUM G, 9(4), 2001, pp. 244-252
Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis
Authors: Heath, KE Gahan, M Whittall, RA Humphries, SE
Citation: Ke. Heath et al., Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis, ATHEROSCLER, 154(1), 2001, pp. 243-246
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
Authors: Heath, KE Campos-Barros, A Toren, A Rozenfeld-Granot, G Carlsson, LE Savige, J Denison, JC Gregory, MC White, JG Barker, DF Greinacher, A Epstein, CJ Glucksman, MJ Martignetti, JA
Citation: Ke. Heath et al., Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes, AM J HU GEN, 69(5), 2001, pp. 1033-1045
I705 variant in the low density lipoprotein receptor gene has no effect onplasma cholesterol levels
Authors: Heath, KE Whittall, RA Miller, GJ Humphries, SE
Citation: Ke. Heath et al., I705 variant in the low density lipoprotein receptor gene has no effect onplasma cholesterol levels, J MED GENET, 37(9), 2000, pp. 713-715
Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene
Authors: Heath, KE Day, INM Humphries, SE
Citation: Ke. Heath et al., Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene, J MED GENET, 37(4), 2000, pp. 272-280
The gene for May-Hegglin anomaly localizes to a < 1-mb region on chromosome 22q12.3-13.1
Authors: Martignetti, JA Heath, KE Harris, J Bizzaro, N Savoia, A Balduini, CL Desnick, RJ
Citation: Ja. Martignetti et al., The gene for May-Hegglin anomaly localizes to a < 1-mb region on chromosome 22q12.3-13.1, AM J HU GEN, 66(4), 2000, pp. 1449-1454
The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia
Authors: Heath, KE Gudnason, V Humphries, SE Seed, M
Citation: Ke. Heath et al., The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia, ATHEROSCLER, 143(1), 1999, pp. 41-54
Rapid detection of polymorphisms in exons 10, 11 and 12 of the low densitylipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting
Authors: Heath, KE Humphries, SE
Citation: Ke. Heath et Se. Humphries, Rapid detection of polymorphisms in exons 10, 11 and 12 of the low densitylipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting, CLIN GENET, 55(3), 1999, pp. 212-214
Risultati: 1-8 |