volume 17, issue 7, P726-729 1998
DOI: 10.1076/ceyr.17.7.726.5169
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Laurent Beaufrère, Stéphanie Rieu, Jean-Claude Hache, Viviane Dumur, Mireille Claustres, Sylvie Tuffery

Abstract: The skipping of exon 13 results in the creation of a stop codon at the misspliced junction. This is the first case of nucleotide substitution at the +3 position of a splice donor site so far described in choroideremia.