DNA sequence of subcloned PCR products from the EpoR gene of affected individual III-3. Analysis of individual subclones shows the sequences for the normal allele (left) and the mutant allele (right). The 7-bp direct repeat in the normal allele is indicated in boxes. In approximately half of the subclones, a 7-bp deletion in exon 8 between positions 5985 and 5991 was detected. Two of the abnormal amino acids resulting from the frameshift in the mutant allele are indicated in bold letters.