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Expanding the clinical and genetic spectrum of FDXR deficie..:
Stenton, Sarah L.
;
Piekutowska‐Abramczuk, Dorota
;
Kulterer, Lea
...
Human Mutation. 42 (2021) 3 - p. 310-319 , 2021
Link:
https://doi.org/10.1002/humu.24160
RT Journal T1
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24160&Exemplar=1&LAN=DE A1 Stenton, Sarah L. A1 Piekutowska‐Abramczuk, Dorota A1 Kulterer, Lea A1 Kopajtich, Robert A1 Claeys, Kristl G. A1 Ciara, Elżbieta A1 Eisen, Johannes A1 Płoski, Rafał A1 Pronicka, Ewa A1 Malczyk, Katarzyna A1 Wagner, Matias A1 Wortmann, Saskia B. A1 Prokisch, Holger PB Hindawi Limited YR 2021 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 42 IS 3 SP 310 OP 319 LK http://dx.doi.org/https://doi.org/10.1002/humu.24160 DO https://doi.org/10.1002/humu.24160 SF ELIB - SuUB Bremen
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