Investigating the molecular basis of partial penetrance with splicing factor gene, PRPF31, implicated in Retinitis Pigmentosa
Retinitis Pigmentosa (RP, MIM#268000) is a significant cause of blindness in the Western world with an incidence of 1 in 3500. The mode of inheritance in RP may be autosomal recessive (ar), autosomal dominant (ad), X-linked recessive or digenic. To date, 39 loci have been implicated in RP, of which...
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University College London (University of London)
2008
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.505250 |