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Updated: Aug 5, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

パーフォリン遺伝子の欠陥が家族性血細胞性リンパヒスティオサイトーシトーシスに起因する

S E Stepp1, R Dufourcq-Lagelouse, F Le Deist

  • 1Department of Pathology and the Graduate Program in Immunology, University of Texas Southwestern Medical School, Dallas, TX 75235, USA.

Science (New York, N.Y.)
|December 3, 1999
PubMed
まとめ

家族性血球性リンパヒスティオサイトーシトーシス (FHL) は,重度の免疫疾患である. パーフェルリン遺伝子の遺伝的欠陥は,染色体10q21-22に関連したFHLを引き起こし,細胞毒性の活性を低下させます.

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Constitutive and Inducible Systems for Genetic In Vivo Modification of Mouse Hepatocytes Using Hydrodynamic Tail Vein Injection09:35

Constitutive and Inducible Systems for Genetic In Vivo Modification of Mouse Hepatocytes Using Hydrodynamic Tail Vein Injection

Published on: February 2, 2018

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

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