Associated Papers
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C et al.
Human Molecular Genetics, 2019
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A et al.
Annals of Human Genetics, 2019
MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures.
Zuntini M et al.
Clinical Genetics, 2010
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
Select a paper to view details