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Ruben Zapata Perez
Ruben Zapata Perez
Missense mutation
Genetics
Ribosomal RNA
Molecular biology
Exome sequencing
2
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9
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0
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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
2017
Human Molecular Genetics
Iliana A. Chatzispyrou
Marielle Alders
Sergio Guerrero-Castillo
Ruben Zapata Perez
Martin A. Haagmans
Laurent Mouchiroud
Janet Koster
Rob Ofman
Frank Baas
Hans R. Waterham
Johannes N. Spelbrink
Johan Auwerx
Marcel M. A. M. Mannens
Riekelt H. Houtkooper
Astrid S. Plomp
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Production and molecular characterization of NAD+ related enzymes and their advanced intermediates = Producción y caracterización molecular de enzimas relacionadas con NAD+ y sus intermedios avanzados
2017
Ruben Zapata Perez
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