Associated Papers
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
Mooij HL et al.
Journal of the American Heart Association, 2014
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M et al.
Gene, 2013
Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C et al.
Journal of Medical Genetics, 2001
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