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Updated: Jun 28, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Published on: June 9, 2018

ゴーシャー病の遺伝子診断

P K Mistry1, S J Smith, M Ali

  • 1Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.

Lancet (London, England)
|April 11, 1992
PubMed
まとめ

遺伝性疾患であるゴーシャー病は,グルコセレブロシダゼ遺伝子変異によって引き起こされます. 増幅抵抗性変異システム (ARMS) 分析により,ユダヤ系および非ユダヤ系患者の特定の変異が特定され,診断とスクリーニングを助けました.

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