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. 2012 Oct 10;21(6):687–690. doi: 10.1038/ejhg.2012.225

Figure 2.

Figure 2

(a) DNA sequencing at the junction between exon 6 and intron 6. The box indicates the nucleotide substitution A>G at the third nucleotide of the donor splice-site consensus sequences (c.388 +3A>G) found in the patient and in his heterozygous mother. (b) cDNA sequencing shows the absence of exon 6 in the patient, but not in his mother. (c) XCI in peripheral leukocytes. Analysis of methylation of HpaII site at the human AR locus. −HpaII, undigested DNA; +HpaII, digested DNA. The same results were obtained using HhaI (data not shown).