Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

Human Mutation

Volumn 10, Issue 2, 1997, Pages 116-127

  Day, I N M ^a   Whittall, R A ^a   O'Dell, S D ^a   Haddad, L ^a   Bolla, M K ^a   Gudnason, V ^a   Humphries, S E ^a  

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

Author keywords

Familial hypercholesterolemia; LDL receptor; Single strand conformational polymorphism

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MUTATION RATE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RECEPTOR GENE; UNITED KINGDOM;

HETEROZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROMOTER REGIONS (GENETICS); RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 0030836649     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.0.CO;2-I     Document Type: Article

References (10)

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8. Day INM, Whittall R, Gundason V, Humphries SE (1995a) Dried template DNA, dried PCR oligonucleotides and mailing in 96-well plates: LDL receptor gene mutation screening. Bio Techniques 18:981-984.
9. Day INM, O'Dell SD, Cash ID, Humphries SE, Weavind GP (1995b) Electrophoresis for genotyping: temporal thermal gradient gel electrophoresis for profiling of oligonucleotide dissociation. Nucleic Acids Res 23:2404-2412.
10. Day INM, Bolla MK, Haddad L, O'Dell SD, Humphries SE (1996) Microtitre array diagonal gel electrophoresis (MADGE) for population screening of genetic diseases. In Elles R (ed): Molecular Diagnosis of Genetic Disease. Humana Press.