Article
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
Human molecular genetics - 1 Sept 2000
Roepman R, Bernoud-Hubac N, Schick D E, Maugeri A, Berger W, Ropers H H, Cremers F P, Ferreira P A
Abstract excerpt
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene cause X-linked retinitis pigmentosa type 3 (RP3), a severe, progressive and degenerative retinal dystrophy eventually leading to complete blindness. RPGR is ubiquitously expressed, yet mutations in the RPGR gene lead to a retina-restricted phenotype. To date, all RP3 associated missense mutations that have been identified are located in the...
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