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Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study

✍ Scribed by Alison J. Hardcastle; Dawn L. Thiselton; Lionel Van Maldergem; Bratin K. Saha; Marcelle Jay; Catherine Plant; Rachel Taylor; Alan C. Bird; Shomi Bhattacharya

Book ID: 117852773
Publisher: American Society of Human Genetics
Year: 1999
Tongue: English
Weight: 562 KB
Volume: 64
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302325

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X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly signifi