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1 Ergebnisse
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A homozygous UBA5 pathogenic variant causes a fatal congeni..:
Cabrera-Serrano, Macarena
;
Coote, David Joseph
;
Azmanov, Dimitar
...
http://hdl.handle.net/10668/15246. , 2020
Link:
http://hdl.handle.net/10668/15246
RT Journal T1
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
UL https://suche.suub.uni-bremen.de/peid=base-ftsspa:oai:www.repositoriosalud.es:10668_15246&Exemplar=1&LAN=DE A1 Cabrera-Serrano, Macarena A1 Coote, David Joseph A1 Azmanov, Dimitar A1 Goullee, Hayley A1 Andersen, Erik A1 McLean, Catriona A1 Davis, Mark A1 Ishimura, Ryosuke A1 Stark, Zornitza A1 Vallat, Jean-Michel A1 Komatsu, Masaaki A1 Kornberg, Andrew A1 Ryan, Monique A1 Laing, Nigel G A1 Ravenscroft, Gina YR 2020 K1 UBA5 K1 peripheral nerve disease K1 rare disease K1 ufmylation K1 Ataxia K1 CRISPR-Cas Systems K1 Central Nervous System K1 Consanguinity K1 Epilepsy K1 Female K1 Gene Expression Regulation K1 Genetic Linkage K1 HEK293 Cells K1 Homozygote K1 Humans K1 Infant K1 Intellectual Disability K1 Male K1 Movement Disorders K1 Mutation K1 Nervous System Malformations K1 Pedigree K1 Peripheral Nerves K1 Proteins K1 Ubiquitin-Activating Enzymes JF http://hdl.handle.net/10668/15246 LK http://hdl.handle.net/10668/15246 DO http://hdl.handle.net/10668/15246 SF ELIB - SuUB Bremen
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