@article{3095530,
    title = "Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia",
    author = "Laios, E. and Glynou, K.",
    journal = "Clinical Biochemistry",
    year = "2008",
    volume = "41",
    number = "1-2",
    pages = "38-40",
    issn = "0009-9120",
    doi = "10.1016/j.clinbiochem.2007.09.017",
    keywords = "low density lipoprotein receptor, article;  familial hypercholesterolemia;  gene frequency;  gene mutation;  genotype;  human;  polymerase chain reaction;  priority journal;  restriction fragment length polymorphism, Alleles;  DNA Mutational Analysis;  False Positive Reactions;  Gene Frequency;  Genotype;  Heterozygote Detection;  Humans;  Hyperlipoproteinemia Type II;  Linkage Disequilibrium;  Mutation;  Polymorphism, Single Nucleotide;  Receptors, LDL;  Research Design",
    abstract = "Objectives: Familial hypercholesterolemia is a monogenic disorder caused by mutations in the LDL receptor (LDLR) gene. We observed allelic drop-out during LDLR genotyping and aimed at redesigning mutation detection. Design and methods: The NanoChip microelectronic array technology and PCR restriction fragment length polymorphism analysis were used. Results: Allele drop-out caused false homozygous diagnoses and was overcome using PCR primers without polymorphisms in the primer binding site. Conclusions: This report presents the importance of allele drop-out in LDLR genotyping. © 2007 The Canadian Society of Clinical Chemists."
}