Article
Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.
American journal of medical genetics - 1 Dec 2001
Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright A F, Yamada K, Niikawa N, Naōi N
Abstract excerpt
We describe three new mutations in a recently identified 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 carrier females showed a wide clinical spectrum, ranging from minor symptoms to severe visual disability. Some...
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