Associated Papers
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
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Kojima H et al.
Genetic Testing, 2008
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Wuyts W et al.
Clinical Genetics, 2005
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.
Seki H et al.
American Journal of Medical Genetics, 2001
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