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1 Ergebnisse
1
Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Sever..:
Thompson, Kyle
;
Majd, Homa
;
Dallabona, Christina
...
10.1016/j.ajhg.2016.08.014. , 2016
Link:
http://hdl.handle.net/10138/168837
RT Journal T1
Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_168837&Exemplar=1&LAN=DE A1 Thompson, Kyle A1 Majd, Homa A1 Dallabona, Christina A1 Reinson, Karit A1 King, Martin S A1 Alston, Charlotte L A1 He, Langping A1 Lodi, Tiziana A1 Jones, Simon A A1 Fattal-Valevski, Aviva A1 Fraenkel, Nitay D A1 Saada, Ann A1 Haham, Alon A1 Isohanni, Pirjo A1 Vara, Roshni A1 Barbosa, Ines A A1 Simpson, Michael A A1 Deshpande, Charu A1 Puusepp, Sanna A1 Bonnen, Penelope E A1 Rodenburg, Richard J A1 Suomalainen, Anu A1 Ounap, Katrin A1 Elpeleg, Orly A1 Ferrero, Ileana A1 McFarland, Robert A1 Kunji, Edmund R. S A1 Taylor, Robert W PB Cell Press YR 2016 K1 ADENINE-NUCLEOTIDE TRANSLOCATOR K1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA K1 SUBSTRATE-BINDING SITE K1 ADP/ATP CARRIER K1 SACCHAROMYCES-CEREVISIAE K1 TRANSPORT MECHANISM K1 RESPIRATORY-CHAIN K1 ANT1 GENE K1 FUNCTIONAL-CHARACTERIZATION K1 BACTERIAL EXPRESSION K1 3111 Biomedicine K1 3123 Gynaecology and paediatrics K1 3112 Neurosciences K1 3124 Neurology and psychiatry JF 10.1016/j.ajhg.2016.08.014 LK http://hdl.handle.net/10138/168837 DO http://hdl.handle.net/10138/168837 SF ELIB - SuUB Bremen
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