Associated Papers
Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.
Ajmal M et al.
Medicina (kaunas, Lithuania), 2022
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Jennes I et al.
Human Mutation, 2009
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 L et al.
Human Mutation, 2006
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
Dobson-Stone C et al.
European Journal of Human Genetics : Ejhg, 2000
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