Targeted Next-Generation Sequencing Newly Identifies Mutations in <i>Exostosin-1</i> and <i>Exostosin-2</i> Genes of Patients with Multiple Osteochondromas-Reference-Cited by-同舟云学术

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas

Published:2017 Issue:3 Volume:242 Page:173-181
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Guo Xiaoyan¹,Lin Mingrui²,Shi Tengfei¹,Yan Wei³,Chen Wenxu¹

Affiliation:

1. Department of Laboratory Medicine, The Second Hospital of Fuzhou Affiliated to Xiamen University

2. Intensive Care Unit, The Affiliated People’s Hospital of Fujian Traditional Medical University

3. Department of Bone Tumors, The Second Hospital of Fuzhou Affiliated to Xiamen University

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://www.jstage.jst.go.jp/article/tjem/242/3/242_173/_pdf

Reference30 articles.

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3. Bozzola, M., Gertosio, C., Gnoli, M., Baronio, F., Pedrini, E., Meazza, C. & Sangiorgi, L. (2015) Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? Ital. J. Pediatr., 4, 41-53.

4. Cheung, P.K., McCormick, C., Crawford, B.E., Esko, J.D., Tufaro, F. & Duncan, G. (2001) Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am. J. Hum.Genet., 69, 55-66.

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