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Updated: Jul 14, 2026

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

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Published on: November 3, 2010

一个分子途径揭示了人类心脏和面缺陷的遗传基础

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
概括

位于染色体22q11上的UFD1L基因的哈普洛缺陷导致22q11删除综合征中的先天性心脏和面缺陷. 这一发现使UFD1L与这些异常的遗传基础有关.

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