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
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
Baasanjav S et al.
Bmc Medical Genetics, 2010
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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