Author: Lotery Andrew J. Ennis Kevin T. Silvestri Giuliana Nicholl Suzanne McGibbon David Collins Alan D. Hughes Anne E.
Publisher: Oxford University Press
ISSN: 1460-2083
Source: Human Molecular Genetics, Vol.5, Iss.5, 1996-01, pp. : 705-708
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Abstract
Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade. We have identified a Northern Irish family with 19 affected individuals in three living generations. We have performed a total genome search and established linkage of CACD in this family to chromosome 17p (multipoint Zmax=5.65 at D17S938). The genes for phosphatidylinositol transfer protein (
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