Shwachman-Diamond综合征三例临床诊治和基因分析
孙青, 谢瑶, 吴鹏辉, 李硕, 赵卫红
图2
SBDS基因突变c.184A>T的Sanger测序验证结果
Figure 2
Sanger sequencing verification results of c.184A>T mutation of the SBDS gene