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Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Usifo, E; Leigh, SEA; Whittall, RA; Lench, N; Taylor, A; Yeats, C; Orengo, CA; (2012) Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment. ANNALS OF HUMAN GENETICS , 76 pp. 387-401. 10.1111/j.1469-1809.2012.00724.x.

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Type: Article
Title: Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
DOI: 10.1111/j.1469-1809.2012.00724.x
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, GENETICS & HEREDITY, Familial hypercholesterolemia, LDLR, locus specific variant database, in silico pathogenicity prediction, SPLICE-SITE, MESSENGER-RNA, MUTATIONS, DIAGNOSIS, DISEASE, SERVER
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Structural and Molecular Biology
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health
URI: http://discovery.ucl.ac.uk/id/eprint/1354283
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