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Figure 2: Sequencing electrophoregram showing (a) wild type sequence, (b) mutant homozygous sequence in the index case and (c,d) heterozygous sequences in the parents of patient 1

Figure 2: Sequencing electrophoregram showing (a) wild type sequence, (b) mutant homozygous sequence in the index case and (c,d) heterozygous sequences in the parents of  patient 1