Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk von Humphries, S E, Whittall, R A, Hubbart, C S, Maplebeck, S, Cooper, J A, Soutar, A K, Naoumova, R, Thompson, G R, Seed, M, Durrington, P N, Miller, J P, Betteridge, D J B, Neil, H A W

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Familial hypercholesterolaemia in Portugal von Bourbon, M, Alves, A.C, Medeiros, A.M, Silva, S, Soutar, A.K

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In vitro functional characterization of missense mutations in the LDLR gene von Silva, S, Alves, A.C, Patel, D, Malhó, R, Soutar, A.K, Bourbon, M

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Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations von Bourbon, M, Duarte, M A, Alves, A C, Medeiros, A M, Marques, L, Soutar, A K

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The effect of peroxisome-proliferator-activated receptor-alpha on the activity of the cholesterol 7 alpha-hydroxylase gene von Patel, D D, Knight, B L, Soutar, A K, Gibbons, G F, Wade, D P

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Human lysozyme gene mutations cause hereditary systemic amyloidosis von Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J.

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Phenotypic Variation in Heterozygous Familial Hypercholesterolemia: A Comparison of Chinese Patients With the Same or Similar Mutations in the LDL Receptor Gene in China or Canada von Pimstone, Simon N, Sun, Xi-Ming, du Souich, Christele, Frohlich, Jiri J, Hayden, Michael R, Soutar, Anne K

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Severe Hypercholesterolemia in Four British Families With the D374Y Mutation in the PCSK9 Gene: Long-Term Follow-Up and Treatment Response von Naoumova, Rossi P, Tosi, Isabella, Patel, Dilip, Neuwirth, Clare, Horswell, Stuart D, Marais, A David, van Heyningen, Charles, Soutar, Anne K

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Localization of apolipoprotein E receptor 2 to caveolae in the plasma membrane von Riddell, D R, Sun, X M, Stannard, A K, Soutar, A K, Owen, J S

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Apolipoprotein AI Mutation Arg-60 Causes Autosomal Dominant Amyloidosis von Soutar, Anne K., Hawkins, P. N., Vigushin, D. M., Tennent, Glenys A., Booth, Susanne E., Hutton, Therese, Nguyen, Oanh, Totty, N. F., Feest, T. G., Hsuan, J. J., Pepys, M. B.

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A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing von Bourbon, M, Sun, X-M, Soutar, A.K

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Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia von Soutar, Anne K, Naoumova, Rossitza P, Traub, Linton M

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Variation in lipoprotein(a) concentration associated with different apolipoprotein(a) alleles von PEROMBELON, Y. F. N, SOUTAR, A. K, KNIGHT, B. L

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Sorting Motifs in the Intracellular Domain of the Low Density Lipoprotein Receptor Interact with a Novel Domain of Sorting Nexin-17 von Burden, Jemima J., Sun, Xi-Ming, García, Ana Bárbara García, Soutar, Anne K.

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Metabolic basis of hyperapobetalipoproteinemia: turnover of apolipoprotein B in low density lipoprotein and its precursors and subfractions compared with normal familial hyperchole... von TENG, B, SNIDERMAN, A. D, SOUTAR, A. K, THOMPSON, G. R

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Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial... von Webb, Julie C., Patel, Dilip D., Shoulders, Carol C., Knight, Brian L., Soutar, Anne K.

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Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families von Slimane, M.N., Lestavel, S., Sun, X.-M., Maatouk, F., Soutar, A.K., Ben Farhat, M.H., Clavey, V., Benlian, P., Hammami, M.

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Identification of a Point Mutation in Growth Factor Repeat C of the Low Density Lipoprotein-Receptor Gene in a Patient with Homozygous Familial Hypercholesterolemia that Affects Li... von Soutar, Anne K., Knight, B. L., Patel, D. D.

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A polymorphism in exon 2 of the human LDL-receptor gene (LDLR) von SOUTAR, A. K

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Characterization of a Splice-Site Mutation in the Gene for the LDL Receptor Associated With an Unpredictably Severe Clinical Phenotype in English Patients With Heterozygous FH von Sun, X.-M, Patel, D.D, Bhatnagar, D, Knight, B.L, Soutar, A.K

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