(Q49121807)
Statements
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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis. (English)
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Robert W Taylor
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Juan Narbona
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Núria Bujan
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Mireia Del Toro
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José Antonio Arranz
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Encarnació Riudor
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Angels Garcia-Cazorla
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Cristina Jou
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Mar O'Callaghan
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Mercé Pineda
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Raquel Montero
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Angela Arias
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Judit García-Villoria
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Charlotte L Alston
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Paz Briones
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Antonia Ribes
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11 December 2015
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26
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72-80
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Identifiers
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