The power of next-generation-sequencing: A game-changer with limitations.
作者信息
Klausegger Alfred, Bauer Johann W
机构信息
EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
出版信息
J Eur Acad Dermatol Venereol. 2025 Jan;39(1):19-20. doi: 10.1111/jdv.20433.
Abstract
摘要
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本文引用的文献
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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.大疱性表皮松解症基因组诊断的进展：揭示新一代测序的力量
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Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status.由于COL7A1基因半合子40 kb缺失及邻近的PFKFB4基因导致的隐性营养不良性大疱性表皮松解症：聚焦于模拟纯合子状态的c.425A>G突变
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A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.在一名隐性营养不良性大疱性表皮松解症患者中，VII型胶原蛋白基因（COL7A1）启动子发生A -96C→T突变，导致转录终止。
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