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Pathogenic variants inGCSHencoding the moonlighting H-prote..:
Arribas-Carreira, Laura
;
Dallabona, Cristina
;
Swanson, Michael A
...
Human Molecular Genetics. 32 (2022) 6 - p. 917-933 , 2022
Link:
https://doi.org/10.1093/hmg/ddac246
RT Journal T1
Pathogenic variants inGCSHencoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddac246&Exemplar=1&LAN=DE A1 Arribas-Carreira, Laura A1 Dallabona, Cristina A1 Swanson, Michael A A1 Farris, Joseph A1 Østergaard, Elsebet A1 Tsiakas, Konstantinos A1 Hempel, Maja A1 Aquaviva-Bourdain, Cecile A1 Koutsoukos, Stefanos A1 Stence, Nicholas V A1 Magistrati, Martina A1 Spector, Elaine B A1 Kronquist, Kathryn A1 Christensen, Mette A1 Karstensen, Helena G A1 Feichtinger, René G A1 Achleitner, Melanie T A1 Lawrence Merritt II, J A1 Pérez, Belén A1 Ugarte, Magdalena A1 Grünewald, Stephanie A1 Riela, Anthony R A1 Julve, Natalia A1 Arnoux, Jean-Baptiste A1 Haldar, Kasturi A1 Donnini, Claudia A1 Santer, René A1 Lund, Allan M A1 Mayr, Johannes A A1 Rodriguez-Pombo, Pilar PB Oxford University Press (OUP) YR 2022 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 32 IS 6 SP 917 OP 933 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddac246 DO https://doi.org/10.1093/hmg/ddac246 SF ELIB - SuUB Bremen
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