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Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

✍ Scribed by Alan J. Mears; Linn Gieser; Denise Yan; Cynthia Chen; Stacey Fahrner; Suja Hiriyanna; Ricardo Fujita; Samuel G. Jacobson; Paul A. Sieving; Anand Swaroop


Book ID
117852751
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
742 KB
Volume
64
Category
Article
ISSN
0002-9297

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Identification of novel RP2 mutations in
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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