A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a)

Human Mutation

Volumn 24, Issue 6, 2004, Pages 474-480

  Parson, Walther ^a   Kraft, Hans Georg ^a   Niederstätter, Harald ^a   Lingenhel, Arnulf W ^a   Köchl, Silvano ^a   Fresser, Friedrich ^a   Utermann, Gerd ^a,b  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b Inst of Med Biol and Hum Genet   (Austria)

Author keywords

Coronary heart disease; Kringle IV; Lipoprotein(a); LPA

Indexed keywords

APOLIPOPROTEIN A; DNA; LIPOPROTEIN A;

ALLELE; ARTICLE; BINDING SITE; CONCENTRATION RESPONSE; DISEASE ASSOCIATION; DNA DETERMINATION; GENE FREQUENCY; GENE ISOLATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; ISCHEMIC HEART DISEASE; KRINGLE DOMAIN; KRINGLE IV 2 DOMAIN; LIPOPROTEIN METABOLISM; MOLECULAR CLONING; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; RARE DISEASE; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; STROKE;

APOLIPOPROTEINS A; CLONING, MOLECULAR; EUROPE; FEMALE; GENE FREQUENCY; GENOME; HUMANS; IMMUNOBLOTTING; KRINGLES; LIPOPROTEIN(A); MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 10844258968     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20101     Document Type: Article

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