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CGI-58 mutations in three patients with CDS and in their heterozygous parents. A, Mutation in acceptor splice site of exon 6. B, Point mutation at nucleotide 389, changing glutamine at position 130 to proline. C, Deletion of 2 bp at nucleotides 46/47, leading to frameshift and to premature stop codon at position 35. Arrowheads indicate the positions of the mutations.
