The molecular biology of Norrie's disease.
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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Moorfields Eye Hospital, London, UK.
Redmond
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RM
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012160:Retina / Q000002:abnormalities*; D012163:Retinal Detachment / Q000235:genetics; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014960:X Chromosome