Allele-specific measurement of low-density lipoprotein receptor transcript levels

Human Mutation

Volumn 8, Issue 2, 1996, Pages 126-133

  Jensen, Lillian G ^a,b,d   Jensen, Henrik K ^a   Heath, Finn ^a   Eiberg, Hans ^c   Kjeldsen, Margrethe ^a   Færgeman, Ole ^a   Kølvraa, Steen ^b   Bolund, Lars ^b   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d NATIONAL NAVAL MEDICAL CENTER   (United States)

Author keywords

Fluorescent DNA technology; Haplotyping; LDL receptor; Missense mutation; mRNA quantitation; Premature stop codon; Promoter mutation

Indexed keywords

COMPLEMENTARY DNA; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

ALLELES; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; RNA, MESSENGER;

EID: 0029772575     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:2<126::AID-HUMU4>3.0.CO;2-9     Document Type: Article

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