A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.
作者信息
Mascaro Martina, D'Ambrosio Luigi, Lazzari Elisa, Almoguera Berta, Swafiri Saoud Tahsin, Zanchetta Melania Eva, Meroni Germana
机构信息
Department of Life Science, University of Trieste, Trieste 34127, Italy.
Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34137, Italy.
出版信息
Biochim Biophys Acta Mol Basis Dis. 2024 Apr;1870(4):167126. doi: 10.1016/j.bbadis.2024.167126. Epub 2024 Mar 18.
PMID:38508475
Abstract
摘要
Zotero 插件