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Detection of the RNASEL 471delAAAG frameshift mutation by sequencing (A–C) and DHPLC (D–F) analyses. A–C, The AAAG deleted sequence is marked by a box; the deletion site is indicated by an arrow. A and D, unaffected control individual. B and E, PRCA-affected individual heterozygous for the 471delAAAG mutation. C and F, PRCA-affected individual homozygous for the 471delAAAG mutation.
