Article
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Human mutation - 1 Aug 2001
Miano M G, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán J M, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A
Abstract excerpt
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 significative difference between RP3 and RP2 phenotypes. In the attempt to assess the degree of involvement of the RP2...
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