Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia [1]

Atherosclerosis

Volumn 125, Issue 1, 1996, Pages 135-137

  Talmud, P J ^a   Tamplin, O J ^a   Heath, K ^a   Gaffney, D ^a   Day, I N M ^a   Humphries, S E ^a  

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

Author keywords

apoB Mutation testing; Familial defective apoB100; Familial hypercholesterolaemia

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN RECEPTOR;

CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FIBROBLAST CULTURE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; LETTER; MAJOR CLINICAL STUDY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0029846892     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/0021-9150(96)05838-8     Document Type: Letter

References (12)

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8. AR Miserez R Laager N Chiodetti U Keller High prevalence of familial defective apolipoprotein B-100 in Switzerland J Lipid Res 35 1994 574
9. P Talmud A Tybjaerg Hansen D Bhatnagar A Mbewu JP Miller P Durrington S Humphries Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia Atherosclerosis 89 1991 137
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11. INM Day R Whittall V Gudnason SE Humphries Dried template DNA, dried PCR oligonucleotides and mailing in 96-well plates: LDL receptor gene mutation screening BioTechniques 18 1995 981 984
12. INM Day SE Humphries Electrophoresis for genotyping: Microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose Anal Biochem 222 1994 389 395