After restricting the candidate region in chromosome 16q22.1 by haplotype analysis , we found that all patients from 52 unrelated Japanese families harbor a heterozygous C -- > T single-nucleotide substitution , 16 nt upstream of the putative translation initiation site of the gene for a hypothetical protein DKFZP434I216 , which we have called `` puratrophin-1 '' ( Purkinje cell atrophy associated protein-1
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