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  • Title: The molecular biology of Norrie's disease.
    Author: Black G, Redmond RM.
    Journal: Eye (Lond); 1994; 8 ( Pt 5)():491-6. PubMed ID: 7835440.
    Abstract:
    The Norrie's disease gene has been accurately located on the short arm of the X chromosome. The methodology underlying this achievement and the structure of the three-exon gene is described in this review article. The clinical implications of these recent advances are discussed. Allelic variants of Norrie's disease and the phenomenon of females affected by X-linked disease are also discussed.
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