Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants

Atherosclerosis

Volumn 128, Issue 1, 1997, Pages 75-83

  Nissen, Henrik ^a   Hansen, Annebirthe Bo ^a   Guldberg, Per ^b   Petersen, Niels Erik ^a   Hansen, Torben Stiig ^a   Hørder, Mogens ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Coronary artery disease; Genetics; Low density lipoprotein receptor

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGED; ARTICLE; CORONARY ARTERY DISEASE; DNA DETERMINATION; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE;

ADOLESCENT; ADULT; AGED; BLOTTING, NORTHERN; ELECTROPHORESIS; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; MALE; MIDDLE AGED; POINT MUTATION; RECEPTORS, LDL; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0031042093     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(96)05967-9     Document Type: Article

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