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Review
. 1994:8 ( Pt 5):491-6.
doi: 10.1038/eye.1994.124.

The molecular biology of Norrie's disease

G Black  1 , R M Redmond
Affiliations
Review

The molecular biology of Norrie's disease

G Black et al. Eye (Lond). 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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