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在患有银河系血病的患者中,对新型和罕见的DNA变异的分子表征

Vasileios Maroulis1, Andreas Agathangelidis1, Anastasia Skouma2

  • 1Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece.

Frontiers in genetics
|December 13, 2023
PubMed
概括

新生儿查发现了5名婴儿的银河系血病. 使用下一代测序的基因分析揭示了八种罕见的DNA变异,四种新奇的,所有预测是致病的,有助于理解这种罕见的遗传疾病.

关键词:
银河系血病 (galactosemia) 是一种疾病.遗传学 遗传学 遗传学 是一个分子分析分子分析突变是一种突变.新生儿查 新生儿查这是下一代测序.

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