Fabry disease: Detection of Alu-mediated exon duplication by NGS.

Farr M, Ferreira S, Al-Dilaimi A, Bogeholz S, Goesmann A, Kalinowski J, Knabbe C, Faber L, Oliveira JP, Rudolph V (2019)
Molecular and cellular probes.

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Zeitschriftenaufsatz | E-Veröff. vor dem Druck | Englisch
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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. Copyright © 2019. Published by Elsevier Ltd.
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Molecular and cellular probes
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Farr M, Ferreira S, Al-Dilaimi A, et al. Fabry disease: Detection of Alu-mediated exon duplication by NGS. Molecular and cellular probes. 2019.
Farr, M., Ferreira, S., Al-Dilaimi, A., Bogeholz, S., Goesmann, A., Kalinowski, J., Knabbe, C., et al. (2019). Fabry disease: Detection of Alu-mediated exon duplication by NGS. Molecular and cellular probes. doi:10.1016/j.mcp.2019.03.008
Farr, M., Ferreira, S., Al-Dilaimi, A., Bogeholz, S., Goesmann, A., Kalinowski, J., Knabbe, C., Faber, L., Oliveira, J. P., and Rudolph, V. (2019). Fabry disease: Detection of Alu-mediated exon duplication by NGS. Molecular and cellular probes.
Farr, M., et al., 2019. Fabry disease: Detection of Alu-mediated exon duplication by NGS. Molecular and cellular probes.
M. Farr, et al., “Fabry disease: Detection of Alu-mediated exon duplication by NGS.”, Molecular and cellular probes, 2019.
Farr, M., Ferreira, S., Al-Dilaimi, A., Bogeholz, S., Goesmann, A., Kalinowski, J., Knabbe, C., Faber, L., Oliveira, J.P., Rudolph, V.: Fabry disease: Detection of Alu-mediated exon duplication by NGS. Molecular and cellular probes. (2019).
Farr, Martin, Ferreira, Susana, Al-Dilaimi, Arwa, Bogeholz, Sonja, Goesmann, Alexander, Kalinowski, Jörn, Knabbe, Cornelius, Faber, Lothar, Oliveira, Joao Paulo, and Rudolph, Volker. “Fabry disease: Detection of Alu-mediated exon duplication by NGS.”. Molecular and cellular probes (2019).

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