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. Author manuscript; available in PMC: 2014 Dec 1.
Published in final edited form as: Prenat Diagn. 2013 Oct 4;33(13):1242–1247. doi: 10.1002/pd.4239

Figure 1. Tandem intragenic duplication of exons 2-5 of NLRP7 in women with recurrent BiHM.

Figure 1

(A) A 32bp region of homology between intron 5 and intron 1 mediates recombination resulting in tandem duplication. (B) A PCR based strategy to detect the presence of the tandem duplication. A forward primer placed in intron 4 and reverse primer in intron 2 amplified a 1,221bp product in #8 (Lane 1), #14 (Lane 2) and #12 (Lane 3) but not in a control female (Lane 4).