Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population

Human Mutation

Volumn 10, Issue 1, 1997, Pages 36-44

  Gudnason, Vilmundur ^a   Sigurdsson, Gunnar ^b   Nissen, Henrik ^c   Humphries, Steve E ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b Reykjavik City Hospital   (Iceland)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Familial hypercholesterolaemia; Iceland; LDL receptor founder mutations

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FOUNDER EFFECT; GENE AMPLIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; ICELAND; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

CELLS, CULTURED; ELECTROPHORESIS, AGAR GEL; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; ICELAND; INTRONS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL; RNA SPLICING;

EID: 0030856566     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:1<36::AID-HUMU5>3.0.CO;2-K     Document Type: Article

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