Novel and recurrent mutations in the EXT 1 and EXT 2 genes in Chinese kindreds with multiple osteochondromas-Reference-Cited by-同舟云学术

Novel and recurrent mutations in the EXT 1 and EXT 2 genes in Chinese kindreds with multiple osteochondromas

Published:2013-04-29 Issue:9 Volume:31 Page:1492-1499
ISSN:0736-0266
Container-title:Journal of Orthopaedic Research
language:en
Short-container-title:J. Orthop. Res.

Author:

Wu Yuhong¹,Xing Xuesha¹,Xu Shaonian²,Ma Hongwei³,Cao Lihua¹,Wang Shusen¹,Luo Yang¹

Affiliation:

1. The Research Center for Medical Genomics, Key Laboratory of Medical Cell Biology; Ministry of Education, China Medical University; Shenyang 110001 China

2. Department of Orthopaedic Oncology; The People's Hospital of Liaoning Province; Shenyang 110016 China

3. Department of Developing Pediatrics; Shengjing Hospital, China Medical University; Shenyang 110004 China

Funder

National Natural Science Foundation of China

National Basic Research Program of China

Publisher

Wiley

Subject

Orthopedics and Sports Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jor.22378/fullpdf

Reference30 articles.

1. The natural history of hereditary multiple exostoses;Schmale;J Bone Joint Surg Am,1994

2. Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases;Lonie;Hum Mutat,2006

3. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1);Ahn;Nat Genet,1995

4. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes;Stickens;Nat Genet,1996

5. Positional cloning of a gene involved in hereditary multiple exostoses;Wuyts;Hum Mol Genet,1996

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1. Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family;Medicina;2022-12-31

2. Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing;Journal of Clinical Laboratory Analysis;2021-08-17

3. A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate;Genetics and Molecular Biology;2021

4. Generation of an induced pluripotent stem cell line SMBCi010-A from a male with Multiple Osteochondroma carrying a EXT1 mutation;Stem Cell Research;2021-01

5. Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes;Oncology Letters;2020-12-30