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A unique missense mutation in the RING domain impairs MID1 ..:
Mascaro, Martina
;
D'Ambrosio, Luigi
;
Lazzari, Elisa
...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1870 (2024) 4 - p. 167126 , 2024
Link:
https://doi.org/10.1016/j.bbadis.2024.167126
RT Journal T1 <Title>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</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.bbadis.2024.167126&Exemplar=1&LAN=DE A1 Mascaro, Martina A1 D'Ambrosio, Luigi A1 Lazzari, Elisa A1 Almoguera, Berta A1 Swafiri, Saoud Tahsin A1 Zanchetta, Melania Eva A1 Meroni, Germana PB Elsevier BV YR 2024 SN 0925-4439 JF Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease VO 1870 IS 4 SP 167126 LK http://dx.doi.org/https://doi.org/10.1016/j.bbadis.2024.167126 DO https://doi.org/10.1016/j.bbadis.2024.167126 SF ELIB - SuUB Bremen
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