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. Author manuscript; available in PMC: 2015 Apr 10.
Published in final edited form as: J Med Genet. 2014 Nov 20;52(2):104–110. doi: 10.1136/jmedgenet-2014-102677

Figure 1.

Figure 1

(A) Pedigree of Family A. (B) Pedigree of Family B. (C) A schematic of SPECC1L protein showing that the T397P mutation lies in the same coiled-coil domain (CCD) as the previously reported Q415P mutation and that the G1083S mutation lies in C-terminal calponin homology domain (CHD). (D) DNA analysis. Trace from proband, AIII.2 and (E) trace from proband BIII.5.