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Article

Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.

American journal of ophthalmology - 1 Sept 1998

Edwards A O, Klein M L, Berselli C B, Hejtmancik J F, Rust K, Wirtz M K, Weleber R G, Acott T S

Abstract excerpt

PURPOSE: To study the phenotypic variability in patients inheriting the disease gene for malattia leventinese (dominant macular drusen) and refine the localization of the gene. METHODS: A family with dominant radial drusen was ascertained and studied with clinical examination and DNA linkage analysis. Inheritance of the disease gene was determined by DNA analysis and used to document the variability in phenotypic...

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PMID: 9744375
DOI: 10.1016/s0002-9394(98)00097-x

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