article_metadata: Feng Zhang Jinlong Liang Xiong Guo Yingang Zhang Yan Wen Qiang Li Zengtie Zhang Weijuan Ma Lanlan Dai Xuanzhu Liu Ling Yang Jun Wang
article_metadata: 10.1371/journal.pone.0072316
article_metadata: PLoS One
article_metadata: 2013 Aug 29;8(8):e72316.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24009674/
article_metadata: Exons Exostoses, Multiple Hereditary / genetics Mutation N-Acetylglucosaminyltransferases / genetics
article_metadata: Exons Exostoses, Multiple Hereditary / genetics Mutation N-Acetylglucosaminyltransferases / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Codon Exome Exostoses, Multiple Hereditary / diagnosis Female Frameshift Mutation High-Throughput Nucleotide Sequencing Humans Knee Joint / diagnostic imaging Knee Joint / pathology Male Pedigree Polymorphism, Single Nucleotide Radiography Young Adult Codon N-Acetylglucosaminyltransferases exostosin-1
article_metadata: PMC3757002
article_metadata: 24009674
article_metadata: Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas
article_metadata: 2013