An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

Human Mutation

Volumn 7, Issue 1, 1996, Pages 82-84

  Jensen, L G ^a,b   Jensen, H K ^a   Nissen, H ^c   Kristiansen, K ^d   Faergeman O ^a   Bolund, L ^b   Gregersen, N ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

^d UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA; TATA BINDING PROTEIN;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE AMPLIFICATION; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PRIORITY JOURNAL; PROMOTER REGION; RNA ANALYSIS; SEQUENCE ANALYSIS;

ALLELES; BASE SEQUENCE; HETEROZYGOTE DETECTION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROMOTER REGIONS (GENETICS); RECEPTORS, LDL; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0030070316     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O     Document Type: Article

References (7)

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2. Hobbs HH, Esser V, Russell DW (1987) Avail polymorphism in the human LDL receptor gene. Nucleic Acids Res 15:379.
3. Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1:445-466.
4. Jensen HK, Jensen TG, Jensen LG, Hansen PS, Kjeldsen M, Andresen BS, Nielsen V, Meinertz H, Hansen AB, Bolund L, Faergeman O, Gregersen N (1994) Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia. Hum Mutat 4:102-113.
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6. Südhof TC, Westhuyzen DR van der, Goldstein JL, Brown MS, Russel DW (1987) Three direct repeats and a TATA-like sequence are required for regulated expression of the human low density lipoprotein recepter gene. J Biol Chem 262:10773-10779.
7. Top B, Uitterlinden AG, van der Zee A, Kastelein JJ, Leuven JA, Havekes LM, Frants RR (1992) Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis. Hum Genet 89:561-565.