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. 2017 Apr 18;18(4):857. doi: 10.3390/ijms18040857

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© 2017 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Pedigrees of the families and genetic sequencing findings. (A) The pedigrees of all investigated cases. Asterisks (*) indicate individuals subjected to next-generation sequencing, individuals marked with a question mark (?) were not genotyped for the FBP1 variants. (B–D,F) Variants in FBP1 gene identified by NGS were verified by Sanger sequencing. Three small deletions/duplications (c.704delC, c.960_961insG, and c.720_729del), two missense (c.355G>A and c.490G>A), and one splicing (c.825+1G>A) mutation were identified in the four patients, and all of the patients inherited the mutations from their parents, respectively. (E) The codon 119 of aspartate is highly-conserved in multiple species.