Feng Zhang Jinlong Liang Xiong Guo Yingang Zhang Yan Wen Qiang Li Zengtie Zhang Weijuan Ma Lanlan Dai Xuanzhu Liu Ling Yang Jun Wang
10.1371/journal.pone.0072316
PLoS One
2013 Aug 29;8(8):e72316.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24009674/
Exons Exostoses, Multiple Hereditary / genetics Mutation N-Acetylglucosaminyltransferases / genetics
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
PMC3757002
24009674
Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas
2013