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The molecular biology of Norrie's disease
1Moorfields Eye Hospital, London, UK.
Eye (London, England)
|January 1, 1994
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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