Article
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.
Neurogenetics - 1 Jul 2017
Hsiao Meng-Chang, Piotrowski Arkadiusz, Poplawski Andrzej Brunon, Callens Tom, Fu Chuanhua, Messiaen Ludwine
Abstract excerpt
Multiplex ligation-dependent probe amplification (MLPA) has been widely used to identify copy-number variations (CNVs), but MLPA's sensitivity and specificity in mosaic CNV detection are largely unknown. Here, we present two mosaic deletions identified by MLPA as NF1 deletion of exons 17-21 and NF2 deletion of exons 9-10. Through cDNA analysis, genomic breakpoint-spanning PCR and Sanger sequencing, we found...
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