整体外基因组测序识别了 CLN6 变异的可变表达性 在受进展性肌细胞性影响的家庭中

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Muhammad Ilyas1, Faiza Tariq2, Rafaqat Ishaq2

  • 1University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan; Department of Medical Laboratory Technology, Riphah International University, Malakand Campus, Khyber Pakhtunkhwa, Pakistan.

Epilepsy research
|February 21, 2024
PubMed
概括

这项研究在巴基斯坦家庭中发现了新的CLN6基因变异,这些家族患有渐进性肌细胞性 (PME). 这些发现扩大了在PME中已知的CLN6突变及其相关表型的范围.

关键词:
CLN6 CLN6 CLN6 CLN6 CLN6 CLN6 CLN6 CLN6 CLN6 CLN6 CLN6神经神经状体的 lipofuscinosis 发生在神经元中.渐进性肌性发症 进展性肌性发症

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