This splice site mutation was not found in the healthy members of this pedigree and in the controls.

家系中健康对照个体及无亲缘关系的正常对照均未发现该突变。

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We report the identification of a splice donor mutation in a novel gene, which is the mouse ortholog of a newly discovered telomeric regulator.

我们报告了一个新基因左拼接剪接变异的证据，这个新基因是一个新发现的鼠同源基因端粒调节体。

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Conclusions No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.

结论3例FA-A型患者均无功能性FANCA蛋白表达；基因缺失、移码突变和剪切位点突变是FANCA基因的主要失活方式。

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