関連する実験動画

Updated: May 6, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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

Published on: August 15, 2019

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SFXN4遺伝子に関連したミトコンドリア疾患の表型説明と機能的特徴付け

Sarah Courtois1, Chloé Angelini2, Juliette Preud'homme3

  • 1INSERM U1211, Rare diseases: genetics and metabolism (MRGM), University of Bordeaux, France; CRMSB - UMR 5536 - CNRS, Centre de Résonance Magnétique des Systèmes Biologiques, University of Bordeaux, France.

Mitochondrion
|February 19, 2026
PubMed
まとめ

Sideroflexin 4 (SFXN4) 遺伝子の病原性変異は,知的障害とマクロサイト性貧血に関連しています. この研究では,SFXN4変異を持つ新しい患者が特定され, sideroblasticマクロサイトーシスとミトコンドリア複合体I欠乏症を示しています.

キーワード:
マクロサイトーシス マクロサイトーシス マクロサイトーシスミトコンドリア疾患はミトコンドリアの病気です.SFXN4 SFXN4 SFXN4 SFXN4

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