Mutation were detected in 9 patients. We describe the first ATM mutation in the splice junction found in the 5′ splice site of intron 17, leading to exon skipping. However, most mutations were ...

Intronic primers flanking exon 9 were designed using the PAC sequence available in the Genbank sequence database (clone DJ0054D12; accession number AC006342). PCR amplification of an approximate 6 ...