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Partial analysis of ZC4H2 cDNA in family K9333. (A) RT–PCR of ZC4H2 mRNA prepared from individuals III-2 and III-3 in family K9333 using 4% agarose. (B) Sequence of ZC4H2 from individuals III-2 and III-3 flanking the exon 2/exon 3 boundary. The schematic shows how the insertion of 45 bp in III-2 results from the c.225 + 5G > A mutation. Bases in the transcripts are in capital letters. Red letters indicate intron 2 sequence. The mutation site is indicated with an asterisk.
