Functional characterization and classification of frequent low-density lipoprotein receptor variants

Human Mutation

Volumn 36, Issue 1, 2015, Pages 129-141

  Etxebarria, Aitor ^a   Benito Vicente, Asier ^a   Palacios, Lourdes ^b   Stef, Marianne ^b   Cenarro, Ana ^c   Civeira, Fernando ^c   Ostolaza, Helena ^a   Martin, Cesar ^a  

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

^b Progenika Biopharma   (Spain)

^c HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

Author keywords

Familial hypercholesterolemia; LDRL; Mutation class defect; Mutations; Statins

Indexed keywords

ANTILIPEMIC AGENT; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LDLR PROTEIN, HUMAN; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ANIMAL; CHEMISTRY; CHO CELL LINE; CRICETULUS; GENETICS; HUMAN; HYPERLIPOPROTEINEMIA TYPE II; METABOLISM; MIDDLE AGED; PROTEIN TERTIARY STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ANIMALS; CHO CELLS; CRICETULUS; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERLIPOPROTEINEMIA TYPE II; HYPOLIPIDEMIC AGENTS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LDL;

EID: 84920083729     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22721     Document Type: Article

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