Published in Gene Therapy Weekly, June 29th, 2006
"An intronic point mutation was identified in the OA1 gene GPR143 in a family with the X-linked form of ocular albinism. Interestingly, the mutation creates a new acceptor splice site in intron 7 of the OA1 gene," wrote F. Vetrini and colleagues, TIGEM.
"In addition to low levels of normally spliced mRNA product of the OA1 gene, the patient samples contained also an aberrantly spliced mRNA with a 165 bp fragment of intron 7 (from position +750 to +914)...
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