A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome (Q38816704)
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scientific article published on 25 April 2017
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome |
scientific article published on 25 April 2017 |
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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome (English)
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Iliana A Chatzispyrou
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Marielle Alders
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Ruben Zapata Perez
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Martin A Haagmans
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Janet Koster
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Rob Ofman
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Frank Baas
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Hans R Waterham
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Marcel M Mannens
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Riekelt H Houtkooper
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Astrid S Plomp
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1 July 2017
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26
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13
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2541-2550
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26 April 2017
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