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A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society
John Wiley & Sons, Inc. The Journal's web site is located at
Yang, L; Hui, WS; Chan, WC; Ng, VC; Yam, TH; Leung, HC; Huang, JD; Shum, DK; Jie, Q; Cheung, KM; Cheah, KS; Luo, Z; Chan, D2010359
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