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

Annals of Human Genetics

Volumn 76, Issue 5, 2012, Pages 387-401

  Usifo, Ebele ^a   Leigh, Sarah E A ^a   Whittall, Ros A ^a   Lench, Nicholas ^b   Taylor, Alison ^b   Yeats, Corin ^a   Orengo, Christine A ^a   Martin, Andrew C R ^a   Celli, Jacopo ^c   Humphries, Steve E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Familial hypercholesterolemia; in silico pathogenicity prediction; LDLR; Locus specific variant database

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; COMPUTER PROGRAM; DATA BASE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE REARRANGEMENT; GENETIC VARIABILITY; MISSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

DATABASES AS TOPIC; GENETIC VARIATION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; PROTEIN ISOFORMS; RECEPTORS, LDL;

EID: 84865076877     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2012.00724.x     Document Type: Article

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