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. 2018 Sep 3;215(9):2289–2310. doi: 10.1084/jem.20170308

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© 2018 de Jong et al.

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Figure 1. — Identification of homozygous mutations affecting human CIB1 in a cohort of 24 EV patients. (A) Pedigrees of six kindreds affected by EV. Familial segregation of homozygous CIB1 mutations (m/m) in six consanguineous families indicating an AR pattern of inheritance with complete clinical penetrance. (B) Graphical representation of the CIB1 cDNA exon (c.CIB1) and protein (p.CIB1) structure with presentation of the EF-hand domains. The arrows at the top indicate the location of the cDNA positions affected by the CIB1 mutations found in the families, whereas those at the bottom indicate their consequences at protein level. *, stop codon; del, deletion; ins, insertion; fs, frameshift.