Journal article

Authors list: Farr, M; Ferreira, S; Al-Dilaimi, A; Bögeholz, S; Goesmann, A; Kalinowski, J; Knabbe, C; Faber, L; Oliveira, JP; Rudolph, V

Publication year: 2019

Pages: 79-83

Journal: Molecular and Cellular Probes

Volume number: 45

ISSN: 0890-8508

DOI Link: https://doi.org/10.1016/j.mcp.2019.03.008

Publisher: Elsevier

Abstract: 
Monogenetic diseases can be analyzed routinely by targeted DNA sequencing. If causative variants are not found, complementary methods like RNA sequencing or analysis of copy number variations by multiplex ligation-dependent probe amplification have to be considered. In the latter, especially exonic duplications or deletions can be detected, but the precise sites of mutations remain unclear. As we demonstrate in this casuistic report of Fabry disease, next-generation sequencing (NGS) of a long-range PCR product can identify the recombination site directly and illuminate the underlying molecular mechanism.

Harvard Citation style: Farr, M., Ferreira, S., Al-Dilaimi, A., Bögeholz, S., Goesmann, A., Kalinowski, J., et al. (2019) Fabry disease: Detection of Alu-mediated exon duplication by NGS, Molecular and Cellular Probes, 45, pp. 79-83. https://doi.org/10.1016/j.mcp.2019.03.008

APA Citation style: Farr, M., Ferreira, S., Al-Dilaimi, A., Bögeholz, S., Goesmann, A., Kalinowski, J., Knabbe, C., Faber, L., Oliveira, J., & Rudolph, V. (2019). Fabry disease: Detection of Alu-mediated exon duplication by NGS. Molecular and Cellular Probes. 45, 79-83. https://doi.org/10.1016/j.mcp.2019.03.008