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Fabry disease: Detection of Alu-mediated exon duplication by NGS
by
Farr, Martin
,
Ferreira, Susana
,
Al-Dilaimi, Arwa
,
Bögeholz, Sonja
,
Goesmann, Alexander
,
Kalinowski, Jörn
,
Knabbe, Cornelius
,
Faber, Lothar
,
Oliveira, João Paulo
,
Rudolph, Volker
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Molecular and cellular probes
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Molecular And Cellular Probes
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Adolescent
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Alpha-Galactosidase - Genetics
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Alu Elements
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Biochemical Research Methods
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Biochemistry & Molecular Biology
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Biotechnology & Applied Microbiology
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Cell Biology
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Exon Duplication
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Exons
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Fabry Disease
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Fabry Disease - Diagnosis
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Fabry Disease - Genetics
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Genetic Predisposition To Disease
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High-Throughput Nucleotide Sequencing - Methods
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Humans
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