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Updated: Jun 9, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
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Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

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BCL11A智力发育障碍:定义临床谱和基因型-表型相关性

Angela Peron1,2,3,4, Felice D'Arco5, Kimberly A Aldinger6,7

  • 1Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. angela.peron@unifi.it.

European journal of human genetics : EJHG
|October 25, 2024
PubMed
概括

与BCL11A相关的智力发育障碍 (IDD) 涉及IDD,小头症和胎儿血红蛋白持续性. 这项研究定义了BCL11A-IDD特征,并确定后脑异常和自主失调是关键特征.

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