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Eye (Lond). 1994;8 ( Pt 5):491-6.

The molecular biology of Norrie's disease.

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  • 1Moorfields Eye Hospital, London, UK.

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.

PMID:
7835440
DOI:
10.1038/eye.1994.124
[PubMed - indexed for MEDLINE]
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