1例疑似X连锁隐性遗传病女性患儿家系遗传学分析
Genetic analysis of a female child family with suspected X-linked recessive genetic disease
WANG Dan-hong, LU Jun
1例疑似X连锁隐性遗传病女性患儿家系遗传学分析 |
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王丹虹, 逯军 |
Genetic analysis of a female child family with suspected X-linked recessive genetic disease |
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WANG Dan-hong, LU Jun
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| 先证者家系全外显子测序 受检者 Xq28 存在约 439.4 Kb 的拷贝数杂合缺失变异,该区域涉及 F8 、 RAB39B 、 CLIC2 共 3 个已知遗传病致病基因,且为新发变异。 |
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