A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. (Q34459250)

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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
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    A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. (English)
    Mark A Corbett
    Tracy Dudding-Byth
    Patricia A Crock
    Louise M Christie
    Tiziana Nardo
    Giuseppina Caligiuri
    Lynne Hobson
    Albert Mansour
    Kathryn L Friend
    Jo Crawford
    Graeme Jackson
    Anna Hackett
    Gillian Turner
    Michael Field
    22 January 2015

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