オステオゲネシス・インペルフェクトの生理間致命的な形態であるコラーゲン遺伝子の内部削除

Nature
|July 7, 1983
PubMed
まとめ

研究者らは,骨発作不完全症 (OI) の患者のプロアルファ1 (((I)) 遺伝子の有意な内部欠損を特定しました. この発見は,骨の脆性障害とI型コラーゲン疾患の遺伝学的理解を前進させる.

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