Matches in Nanopublications for { ?s ?p "[Here we report that the analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation (Pro363Thr), two point mutations affecting splicing (912 + 1G-->T and 65 + 5G-->A) and two small re-arrangements (ins144T and 831del8) on a total of nine alleles of five patients with arCSRD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP28638.RAAtq3OEa8C0jzFERFxHIOGAH5COWyi8x7ieBotpQOtDk130_assertion description "[Here we report that the analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation (Pro363Thr), two point mutations affecting splicing (912 + 1G-->T and 65 + 5G-->A) and two small re-arrangements (ins144T and 831del8) on a total of nine alleles of five patients with arCSRD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP28638.RAAtq3OEa8C0jzFERFxHIOGAH5COWyi8x7ieBotpQOtDk130_provenance.