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Volume 61, Pages 63-69 (August 2016) Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis  Qing-Li Wang, MD,

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Presentation on theme: "Volume 61, Pages 63-69 (August 2016) Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis  Qing-Li Wang, MD,"— Presentation transcript:

1 Volume 61, Pages 63-69 (August 2016)
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis  Qing-Li Wang, MD, Shanna Guo, MD, Guangyou Duan, MD, Ying Ying, MD, Penghao Huang, MD, Jing Yu Liu, PhD, Xianwei Zhang, MD, PhD  Pediatric Neurology  Volume 61, Pages (August 2016) DOI: /j.pediatrneurol Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 The pictures involving clinical features of Patients 1, 2, and 3. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 63-69DOI: ( /j.pediatrneurol ) Copyright © 2016 The Authors Terms and Conditions

3 Figure 2 Sequencing chromatographs of the six variants in five patients and their parents from four unrelated families. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 63-69DOI: ( /j.pediatrneurol ) Copyright © 2016 The Authors Terms and Conditions

4 Figure 3 The crystal structure of amino acids of the human NTRK1 (PDB ID = 4F0I). (A) The catalytic domain, amino acids , is shown in yellow ribbons, in which, three mutated Leu601, Arg692, and Arg771 are all colored red. (B) The lost catalytic domain due to p.Arg602* is shown in gray ribbons. The residue Arg602 is colored red. PDB, Protein Data Bank. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 63-69DOI: ( /j.pediatrneurol ) Copyright © 2016 The Authors Terms and Conditions

5 Figure 4 Multiple sequence alignment: Leu601, Arg692, and Arg771 of human NTRK1 are evolutionarily conserved as shown in four representative species. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 63-69DOI: ( /j.pediatrneurol ) Copyright © 2016 The Authors Terms and Conditions


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