Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers.
By using targeted next-generation sequencing (NGS) method we identified a compound heterozygous mutation in PDE6A gene that is associated with retinitis pigmentosa in a Chinese family.
this is the first phenotypic description of arRP due to homozygous IVS6+1G>A mutations in PDE6A and these seem here to be associated with severe RP leading to early extinction of rod responses as well as reduced macular function.
report two splice acceptor site variations in PDE6A in consanguineous Pakistani families who manifested cardinal symptoms of autosomal recessive retinitis pigmentosa
Homozygous single base pair change; c.889C->T single base pair insertion; c.2218-2219insT and single base pair substitution in the splice acceptor site; IVS10-2A->G in each of three families.
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