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Updated: Aug 9, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
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ニューロフィブロマトーシス1型遺伝子の主要なセグメント:cDNA配列,ゲノム構造,点変異

R M Cawthon1, R Weiss, G F Xu

  • 1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84103.

Cell
|July 13, 1990
PubMed
まとめ

転位ブレイクポイント領域 (TBR) 遺伝子は,神経線維腫1型 (NF1) 遺伝子として確認されています. NF1患者の特定された突然変異の配列を解析し,この疾患の遺伝的根拠を明らかにした.

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