Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

Human Mutation

Volumn 33, Issue 1, 2012, Pages 232-243

  Etxebarria, Aitor ^a   Palacios, Lourdes ^b   Stef, Marianne ^b   Tejedor, Diego ^b   Uribe, Kepa B ^a   Oleaga, Amalia ^c   Irigoyen, Luis ^d   Torres, Beatriz ^d   Ostolaza, Helena ^a   Martin, Cesar ^a  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b Progenika Biopharma SA   (Spain)

^c HOSPITAL DE BASURTO   (Spain)

^d HOSPITAL TXAGORRITXU   (Spain)

Author keywords

Familial hypercholesterolemia; LDL receptor; LDL uptake assay

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA;

ARTICLE; CATABOLISM; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FLOW CYTOMETRY; GENE MUTATION; HUMAN; INTERNALIZATION; INTRON; LIGAND BINDING; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK REDUCTION; RNA SPLICING;

BASE SEQUENCE; BINDING SITES; CASE-CONTROL STUDIES; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EXONS; GENE EXPRESSION; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; MOLECULAR SEQUENCE DATA; POINT MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LDL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA SPLICING; T-LYMPHOCYTES;

EID: 84857033709     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21630     Document Type: Article

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