関連する実験動画

Updated: Jul 14, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

ヒトの心臓や頭蓋骨の欠陥の遺伝的基盤を明らかにする分子経路

H Yamagishi1, V Garg, R Matsuoka

  • 1Department of Pediatrics, Division of Cardiology, University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Room NA8.124, Dallas, TX 75235-9148, USA.

Science (New York, N.Y.)
|February 19, 1999
PubMed
まとめ

染色体22q11に位置するUFD1L遺伝子のハプロイン欠乏症は,22q11消去症候群における先天性心臓および頭蓋の欠陥に寄与する. この発見は,UFD1Lがこれらの異常の遺伝的基礎に関与していることを示唆している.

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