Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

Human Molecular Genetics

Volumn 5, Issue 9, 1996, Pages 1325-1331

  Webb, Julie C ^a   Patel, Dilip D ^a   Shoulders, Carol C ^a   Knight, Brian L ^a   Soutar, Anne K ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CASE REPORT; DNA POLYMORPHISM; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC VARIABILITY; HUMAN; INTRON; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING;

ADULT; BASE SEQUENCE; CHROMOSOME MAPPING; FEMALE; HUMANS; HYPERCHOLESTEROLEMIA; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RECEPTORS, LDL; RNA SPLICING; RNA, MESSENGER;

EID: 0029788884     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.9.1325     Document Type: Article

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