Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (Q34466839)

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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
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    Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (English)
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    Michael Krieger
    Claudia Stendel
    Carsten Bergmann
    Markus Moser
    Nico Breitbach-Faller
    Sabine Rudnik-Schöneborn
    Astrid Blaschek
    Inga Harting
    Janine Smith
    Francesco Muntoni
    Martin Brockington
    Susana Quijano-Roy
    Francis Renault
    Ralf Herrmann
    Linda M Hendershot
    J Michael Schröder
    Thomas Voit
    Joachim Weis
    Friedrich Ebinger
    Klaus Zerres
    13 November 2005
    1312-1314

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