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. Author manuscript; available in PMC: 2017 Sep 28.
Published in final edited form as: Nat Genet. 2015 Oct 5;47(11):1260–1263. doi: 10.1038/ng.3376

Figure 1.

Figure 1

MMP21 mutations identified in 9 affected families. (a) Pedigrees of families 1-9. MMP21 variants refer to RefSeq transcript NM_147191.1. Index cases (including those submitted to HaloPlex sequencing) are indicated in red. (b) Domain structure of MMP21 with mutations identified. S.P., signal peptide; Hx, hemopexin repeat. (c), Radiography of a normal individual and of patients F6-III:3 and F5-II:4.