A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
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2009-04-07
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Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, Bai Y. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. Journal of Genetics. 2009 Apr; 88(1): 87-91