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Mutations in SLC25A46, encoding a UGO1-like protein, cause ..:
Abrams, Alexander J
;
Hufnagel, Robert B
;
Rebelo, Adriana
...
qt2ft7n3zk. , 2015
Link:
https://escholarship.org/uc/item/2ft7n3zk
RT Journal T1
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt2ft7n3zk&Exemplar=1&LAN=DE A1 Abrams, Alexander J A1 Hufnagel, Robert B A1 Rebelo, Adriana A1 Zanna, Claudia A1 Patel, Neville A1 Gonzalez, Michael A A1 Campeanu, Ion J A1 Griffin, Laurie B A1 Groenewald, Saskia A1 Strickland, Alleene V A1 Tao, Feifei A1 Speziani, Fiorella A1 Abreu, Lisa A1 Schüle, Rebecca A1 Caporali, Leonardo A1 La Morgia, Chiara A1 Maresca, Alessandra A1 Liguori, Rocco A1 Lodi, Raffaele A1 Ahmed, Zubair M A1 Sund, Kristen L A1 Wang, Xinjian A1 Krueger, Laura A A1 Peng, Yanyan A1 Prada, Carlos E A1 Prows, Cynthia A A1 Schorry, Elizabeth K A1 Antonellis, Anthony A1 Zimmerman, Holly H A1 Abdul-Rahman, Omar A A1 Yang, Yaping A1 Downes, Susan M A1 Prince, Jeffery A1 Fontanesi, Flavia A1 Barrientos, Antonio A1 Németh, Andrea H A1 Carelli, Valerio A1 Huang, Taosheng A1 Zuchner, Stephan A1 Dallman, Julia E PB eScholarship, University of California YR 2015 K1 COS Cells K1 Embryo K1 Nonmammalian K1 Animals K1 Genetically Modified K1 Zebrafish K1 Humans K1 Optic Atrophy K1 Autosomal Dominant K1 Charcot-Marie-Tooth Disease K1 Genetic Predisposition to Disease K1 Phosphate Transport Proteins K1 Muscle Proteins K1 Saccharomyces cerevisiae Proteins K1 Membrane Proteins K1 Mitochondrial Proteins K1 Microscopy K1 Confocal K1 Electron K1 Transmission K1 Pedigree K1 Sequence Analysis K1 DNA K1 RNA Interference K1 Protein Binding K1 Mutation K1 Female K1 Male K1 Mitochondrial Membranes K1 HEK293 Cells K1 Exome K1 Chlorocebus aethiops K1 Brain Disorders K1 Genetics K1 Neurosciences K1 Rare Diseases K1 Eye Disease and Disorders of Vision K1 Neurological K1 Biological Sciences K1 Medical and Health Sciences K1 Developmental Biology JF qt2ft7n3zk LK http://dx.doi.org/https://escholarship.org/uc/item/2ft7n3zk DO https://escholarship.org/uc/item/2ft7n3zk SF ELIB - SuUB Bremen
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