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用基因组测序和转录分析对俄罗斯患者患有原发性纤毛功能障碍的病原性遗传变异进行表征

Anna Zlotina1, Svetlana Barashkova2,3, Sergey Zhuk2

  • 1Almazov National Medical Research Centre, Saint-Petersburg, Russia, 197341. anna-zlotina@yandex.ru.

Orphanet journal of rare diseases
|August 23, 2024
PubMed
概括

这项研究在21个俄罗斯家庭中表征了原发性状动力障碍 (PCD),确定了致病基因变异和新突变. 这些发现突显了俄罗斯PCD的遗传谱和基因组测序的有效性.

关键词:
这就是DNAH5H5的DNA.希丁尼 (HYDIN) 的意思是说,希丁尼.在ZMYND10中使用.创始人突变 创始人突变基因组测序的基因组测序主要的状动力障碍症.俄罗斯人口 俄罗斯人口.拼接地点的变体转录分析 转录分析

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