EXT1Exostosis Type 1 Gene
References in periodicals archive ?
A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis.
The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions.
Mutations in EXT1 and EXT2 account for 44%-66% and 30% of HME patients, respectively, whereas EXT3 appears to be the minor locus (100).
Diagnosis: Genetic confirmation of the diagnosis can be obtained by mutation analysis of EXT1, EXT2, and EXT3 (100, 102, 103).
Recently, denaturing HPLC (DHPLC) appears to be more sensitive than other methods in mutation detection, as exemplified in the detection of TSC1 (13), TSC2 (14), BRCA1 (15,16), BRCA2 (15), CFTR (13), EXT1 (17), EXT2 (17), and HPRT (18).