Vink GR, White SJ, Gabelic S, Hogendoorn PCW, Breuning MH, Bakker E. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. European Journal of Human Genetics. 2004 Dec 08;13(4):470–4. doi: 10.1038/sj.ejhg.5201343.
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations