Article
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report.
Clinical chemistry and laboratory medicine - 1 Apr 2014
Galbiati Silvia, Stenirri Stefania, Sbaiz Luca, Barberis Marco, Cremonesi Laura, Restagno Gabriella, Ferrari Maurizio
Abstract excerpt
BACKGROUND: Non-invasive prenatal diagnosis has found application in a limited number of genetic diseases due to the difficulty in detecting a few copies of fetal mutated sequences in the presence of a large excess of wild-type maternal alleles, even in the case of single-base mutations. METHODS: We developed conditions for the enrichment of fetal mutated alleles in maternal plasma based on CO-amplification at...
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