眼皮肤白化病新的TYR基因突变位点报道分析
Journal of China Medical University（2020）
Abstract
利用全外显子测序方法对一个连续两代(父子)发病的眼皮肤白化病家系进行致病基因识别.结果显示,先证者(父)是TYR c.1A>G纯合突变,其子(患者)为TYR c.1A>G及c.929-930insC复合杂合突变,先证者妻子表型正常,携带TYR c.929-930insC杂合突变.
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