Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RDG, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascad...

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Veröffentlicht in:	Clinical genetics 2010-06, Vol.77 (6), p.572-580
Hauptverfasser:	Taylor, A, Wang, D, Patel, K, Whittall, R, Wood, G, Farrer, M, Neely, RDG, Fairgrieve, S, Nair, D, Barbir, M, Jones, JL, Egan, S, Everdale, R, Lolin, Y, Hughes, E, Cooper, JA, Hadfield, SG, Norbury, G, Humphries, SE
Format:	Artikel
Sprache:	eng
Schlagworte:	APOB Apolipoproteins B - genetics Biological and medical sciences Cholesterol Deoxyribonucleic acid Disorders of blood lipids. Hyperlipoproteinemia DNA familial hypercholesterolaemia Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Testing Genetics Genetics of eukaryotes. Biological and molecular evolution Humans Hypercholesterolemia - diagnosis Hypercholesterolemia - genetics LDLR Medical diagnosis Medical genetics Medical sciences Metabolic diseases Molecular and cellular biology Mutation mutation detection PCSK9 Pilot Projects Receptors, LDL - genetics United Kingdom
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