Update and analysis of the university college London low density lipoprotein receptor familial hypercholesterolemia database

Annals of Human Genetics

Volumn 72, Issue 4, 2008, Pages 485-498

  Leigh, S E A ^a   Foster, A H ^a   Whittall, R A ^a   Hubbart, C S ^a   Humphries, S E ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Database; Familial Hypercholesterolaemia; LDLR; Nomenclature

Indexed keywords

CHOLESTEROL; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

AMINO ACID SEQUENCE; ARTICLE; COMPUTER PROGRAM; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC DATABASE; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INTRON; LIGAND BINDING; MEDICAL LITERATURE; MEDICAL SCHOOL; MISSENSE MUTATION; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOGENICITY; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SPECIES DIFFERENCE; UNITED KINGDOM;

AMINO ACID SUBSTITUTION; ANIMALS; DATABASES, GENETIC; EVOLUTION, MOLECULAR; GENE REARRANGEMENT; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MEDICINE IN LITERATURE; POLYMORPHISM, GENETIC; RECEPTORS, LDL;

EID: 44849108492     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2008.00436.x     Document Type: Article

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