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TITLE: Functional characterization of point mutations in the LDLR gene found in Portuguese patients with clinical diagnosis of familial hypercholesterolaemia. Full Text
AUTHORS: Silva, S; Patel, D; Bourbon, M; Soutar, AK;
PUBLISHED: 2007, SOURCE: 76th Congress of the European-Atherosclerosis-Society in ATHEROSCLEROSIS SUPPLEMENTS, VOLUME: 8, ISSUE: 1

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WOS

TITLE: PCSK9 gene analysis in Portuguese patients with familial hypercholesterolemia Full Text
AUTHORS: Alves, AC; Rato, Q; Furtado, A; Bourbon, M;
PUBLISHED: 2007, SOURCE: 76th Congress of the European-Atherosclerosis-Society in ATHEROSCLEROSIS SUPPLEMENTS, VOLUME: 8, ISSUE: 1

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WOS

TITLE: A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing Full Text
AUTHORS: Bourbon, M; Sun, XM; Soutar, AK;
PUBLISHED: 2007, SOURCE: Atherosclerosis, VOLUME: 195, ISSUE: 1

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ORCID

TITLE: Molecular study of familial hypercholesterolemia in Portugal Full Text
AUTHORS: Bourbon, M; Alves, AC; Medeiros, AM; Silva, S; Soutar, AK;
PUBLISHED: 2006, SOURCE: 14th Meeting of the International-Society-of-Atherosclerosis in ATHEROSCLEROSIS SUPPLEMENTS, VOLUME: 7, ISSUE: 3

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WOS

TITLE: Mutation detection in LDLR gene by DHPLC and sequencing Full Text
AUTHORS: Alves, AC; Soutar, AK; Bourbon, M;
PUBLISHED: 2006, SOURCE: 14th Meeting of the International-Society-of-Atherosclerosis in ATHEROSCLEROSIS SUPPLEMENTS, VOLUME: 7, ISSUE: 3

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WOS

TITLE: Clinical characteristics of Portuguese patients with a clinical diagnosis of familial hypercholesterolaemia Full Text
AUTHORS: Bourbon, M; Alves, AC; Silva, JM; Rato, Q; Silva, PM; Azevedo, I; Furtado, A; Naoumova, RP;
PUBLISHED: 2006, SOURCE: 14th Meeting of the International-Society-of-Atherosclerosis in ATHEROSCLEROSIS SUPPLEMENTS, VOLUME: 7, ISSUE: 3

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WOS

TITLE: Determinants of variable response to statin treatment in patients with refractory familial hypercholesterolemia
AUTHORS: O'Neill, FH; Patel, DD; Knight, BL; Neuwirth, CKY; Bourbon, M; Soutar, AK; Taylor, GW; Thompson, GR; Naoumova, RP;
PUBLISHED: 2001, SOURCE: Arteriosclerosis, Thrombosis, and Vascular Biology, VOLUME: 21, ISSUE: 5

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ORCID

TITLE: Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia
AUTHORS: Norman, D; Sun, XM; Bourbon, M; Knight, BL; Naoumova, RP; Soutar, AK;
PUBLISHED: 1999, SOURCE: Journal of Clinical Investigation, VOLUME: 104, ISSUE: 5

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Scopus

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ORCID