関連する実験動画

Updated: Jul 6, 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

G6PD欠乏症は,まれな神経疾患の認識されていない遺伝的リスク因子である:集団ベースの遺伝分析から得られた証拠

Qi Peng1,2,3, Siping Li1, Fen Lv1,2,3

  • 1Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.

Frontiers in genetics
|February 20, 2026
PubMed
まとめ

グルコース-6-フォスファート脱水素酶 (G6PD) 欠乏症は,中国人の子供における希少神経疾患のリスクの高さに関連しています. これは,G6PD欠乏症が,血液溶解性貧血に対する既知の効果を超えて,神経発達に影響を及ぼす可能性があることを示唆しています.

キーワード:
中国人人口 中国人人口G6PDの欠乏症である.遺伝的リスク因子遺伝的リスク因子ニューロンの発達神経学的障害 神経学的障害病原性変異の病原性変異は,病原性変異の病原性変異である.全エクソームシーケンシング

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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