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Updated: Jul 11, 2025

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由于TPP1中发现的一种新型同卵性深内联结合变异导致的CLN2疾病,使用长读序列测序来发现

Connolly Steigerwald1, Jill Borsuk2, John Pappas2

  • 1Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY 10016, USA.

Molecular genetics and metabolism
|November 3, 2023
PubMed
概括

在缺乏典型TPP1变异的兄弟姐妹中,神经状脂症2型 (CLN2) 疾病诊断具有挑战性. 长读测序揭示了一个深度内基变异,突出了精确基因诊断的先进技术.

关键词:
在 CLN2 中, CLN2 是长读序列的测序方式神经神经状体脂症类型2在RNA测序过程中,RNA测序拼接的变体是拼接的变体.在TPP1中,TPP1是TPP1.

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