Article
Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis.
Molecular and cellular probes - 1 Dec 1994
Kotze M J, Langenhoven E, Peeters A V, Theart L, Oosthuizen C J
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) is a dominantly-inherited genetic disorder causing primary hypercholesterolemia and premature coronary heart disease. To date, only two mutations causing FDB have been identified. A rapid non-radioactive technique is described to detect both disease-related apolipoprotein B point mutations in polymerase chain reaction (PCR) products amplified from genomic DNA....
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