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. 2016 Oct 13;3:16034. doi: 10.1038/hgv.2016.34

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Copyright © 2016 The Author(s)

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/

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Identification of the sequence variation of FGFR1. (a) Partial sequence of PCR product and schematic diagrams of the FGFR1 protein. The chromatogram exhibits a heterozygous substitution of proline (CCC) in place of histidine (CAC) at codon 253, which is located at the amino terminus of the third immunoglobulin-like domain in the extracellular region of FGFR1. The red arrow indicates the mutated nucleotide. A summary of the reported 10 missense mutations identified in Hartsfield syndrome patients is presented. (b) His253 is a highly conserved amino acid in all four FGFRs. FGFR, fibroblast growth factor receptor.