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Positional cloning of the gene for X-linked retinitis pigmentosa 2

✍ Scribed by Berger, Wolfgang; Schwahn, Uwe; Lenzner, Steffen; Dong, Juan; Feil, Silke; Hinzmann, Bernd; van Duijnhoven, Gerard; Kirschner, Renate; Hemberger, Myriam; Bergen, Arthur A.B.; Rosenberg, Thomas; Pinckers, Alfred J.L.G.; Fundele, Reinald; Rosenthal, André; Cremers, Frans P.M.; Ropers, H.-Hilger


Book ID
109488357
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
239 KB
Volume
19
Category
Article
ISSN
1061-4036

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We describe three new mutations in a recently identi®ed exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1±3) with X-linked retinitis pigmentosa (XLRP). The affected males had typical retinitis pigmentosa (RP), whereas the obligate