Sequencing of the PAX6 gene , three intragenic mutations including a novel heterozygous splicing-site mutations c.357-3C > G ( p.Ser119fsX ) were identified in the patients of the AN group .
O O O B-GeneOrGeneProduct O O O O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O B-SequenceVariant O O O O O B-OrganismTaxon O O B-DiseaseOrPhenotypicFeature O O