Article
Sequence variation within the RPGR gene: evidence for a founder complex allele.
Human mutation - 1 Sept 2000
Zito I, Morris A, Tyson P, Winship I, Sharp D, Gilbert D, Thiselton D L, Bhattacharya S S, Hardcastle A J
Abstract excerpt
In our study of sequence variation within the RPGR gene associated with X-linked retinitis pigmentosa, we and others have observed a high rate of new mutation within this gene, as all reported mutations are unique or uncommon. In this article we report the identification in a single family of a complex allele of 7 sequence variants in linkage disequilibrium, of which four result in amino-acid alterations...
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