The UCL low-density lipoprotein receptor gene variant database: Pathogenicity update

Journal of Medical Genetics

Volumn 54, Issue 4, 2017, Pages 217-223

  Leigh, Sarah ^a   Futema, Marta ^a   Whittall, Ros ^a   Taylor Beadling, Alison ^b   Williams, Maggie ^c   den Dunnen, Johan T ^d   Humphries, Steve E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c SOUTHMEAD HOSPITAL   (United Kingdom)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR PROTEIN, HUMAN;

ARTICLE; CLASSIFICATION; COMPUTER MODEL; COMPUTER PREDICTION; DATA BASE; FAMILIAL HYPERCHOLESTEROLEMIA; FRAMESHIFT MUTATION; GENE REARRANGEMENT; GENETIC VARIABILITY; HUMAN; INTRON; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MEDLINE; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; GENETIC DATABASE; GENETIC VARIATION; GENETICS; PATHOLOGY; PHENOTYPE;

DATABASES, GENETIC; GENETIC VARIATION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION, MISSENSE; PHENOTYPE; PROMOTER REGIONS, GENETIC; RECEPTORS, LDL;

EID: 84994905053     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-104054     Document Type: Article

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