Physical mapping of Xp11.22-Xp11.3; an interval containing the RP2 gene (original) (raw)

Amer J Hum Genet, 1994

Abstract

Genetic linkage studies have established a region on the short arm of the human X chromosome (Xp11.22-Xp11.3) to be implicated in several inherited opthalmic diseases. Aland Island eye disease (AIED), congenital stationary night blindness 1 (CSNB1), X-linked progressive cone dystrophy and one form of retinitis pigmentosa (RP2) all map to the interval. A lack of multiple informative recombinants in RP2

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