Shwachman Diamond综合征的剪切位点突变及表型分析(4)
[7]MACK D R, FORSTNER G G, WILSCHANSKI M, et al. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression[J]. Gastroenterology, 1996,111(6):1593-1602.[8]GINZBERG H, SHIN J, ELLIS L, et al. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar[J]. The Journal of Pediatrics ......
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