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Updated: Jun 28, 2026

Fluorescence-microscopy Screening and Next-generation Sequencing: Useful Tools for the Identification of Genes Involved in Organelle Integrity
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分离,免疫组织化学,分子和功能分析将 fumarate hydratase (FH) 中的一种新型误解变异归类为致病性

Lydia Ouchene1,2, Blake Wilde3,4, Fiona Chan-Pak-Choon5

  • 1Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, Canada.

Genes, chromosomes & cancer
|April 29, 2024
PubMed
概括

遗传性肌瘤和细胞癌 (HLRCC) 与烟酸酸酶 (FH) 基因变异有关. 一种特定的FH变种 (c.1039T>C) 被重新归类为致病性,有助于HLRCC的诊断和查.

关键词:
皮肤上的雷伊肌瘤烟酸酸盐酸酶是什么意思遗传性状肌瘤和细胞癌 (HLRCC)错误的意义变体的变体癌 癌 癌 癌 癌

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