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1 Ergebnisse
1
Presynaptic congenital myasthenic syndrome with altered syn..:
Maselli, Ricardo A
;
Vázquez, Jessica
;
Schrumpf, Leah
...
qt75c1g7vh. , 2018
Link:
https://escholarship.org/uc/item/75c1g7vh
RT Journal T1
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt75c1g7vh&Exemplar=1&LAN=DE A1 Maselli, Ricardo A A1 Vázquez, Jessica A1 Schrumpf, Leah A1 Arredondo, Juan A1 Lara, Marian A1 Strober, Jonathan B A1 Pytel, Peter A1 Wollmann, Robert L A1 Ferns, Michael PB eScholarship, University of California YR 2018 K1 Biochemistry and Cell Biology K1 Genetics K1 Biological Sciences K1 Neurosciences K1 Pediatric K1 Human Genome K1 Neurological K1 Adaptor Proteins K1 Signal Transducing K1 Child K1 Female K1 Heterozygote K1 Homeostasis K1 Humans K1 Microscopy K1 Electron K1 Myasthenic Syndromes K1 Congenital K1 Nerve Tissue Proteins K1 Synaptic Transmission K1 Synaptic Vesicles K1 Vesicular Transport Proteins K1 congenital myasthenic syndrome K1 presynaptic K1 rabphilin 3a K1 RPH3A K1 Medicinal and Biomolecular Chemistry K1 Clinical Sciences JF qt75c1g7vh LK http://dx.doi.org/https://escholarship.org/uc/item/75c1g7vh DO https://escholarship.org/uc/item/75c1g7vh SF ELIB - SuUB Bremen
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