학술논문
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
Document Type
Article
Author
van Karnebeek, Clara D.M.; Tarailo-Graovac, Maja; Leen, René; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V.; Pena, Izabella A.; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L.; Drögemöller, Britt I.; Grootemaat, Anita E.; van der Wel, Nicole N.; Dobritzsch, Doreen; Roseboom, Winfried; Schomakers, Bauke V.; Jaspers, Yorrick R.J.; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R.; van der Lee, Robin; Ross, Colin J.; Kochan, Jakub; McIntyre, Rebecca L.; van Klinken, Jan B.; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michèl A.; Riva, Daria; Garavaglia, Barbara; Moeschler, John B.; Filiano, James J.; Ekker, Marc; Berman, Jason N.; Dyment, David; Vaz, Frédéric M.; Wasserman, Wyeth W.; Houtkooper, Riekelt H.; van Kuilenburg, André B.P.
Source
In Genetics in Medicine June 2024 26(6)
Subject
Language
ISSN
1098-3600