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Fig. 3. The novel point mutation in HOXD13. (A,B) Electropherograms showing the wild-type (A) and mutant (B) alleles (subcloned) in V.7. (C) PCR amplification of genomic DNA using a forward primer specific for the mutant allele yielded a 100 bp product in seven affected family members but no product in an unaffected family member or a control individual.





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