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Updated: Jul 10, 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

遺伝性ニューロパシーに関連したDNAの消去は,圧迫性麻痺の危険性がある

P F Chance1, M K Alderson, K A Leppig

  • 1Department of Pediatrics, University of Utah Medical Center, Salt Lake City 84132.

Cell
|January 15, 1993
PubMed
まとめ

圧迫性麻痺 (HNPP) への危険性のある遺伝性神経症は,染色体17p11.2の欠損に関連しています. PMP-22遺伝子に影響するこの削除は,その過剰発現が,外周神経障害であるHNPPを引き起こすことを示唆しています.

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Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor09:33

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

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