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1 Ergebnisse
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Cathepsin F mutations cause Type B Kufs disease, an adult-o..:
Smith, Katherine R
;
Dahl, Hans-Henrik M
;
Canafoglia, Laura
...
qt8872x1bz. , 2013
Link:
https://escholarship.org/uc/item/8872x1bz
RT Journal T1
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt8872x1bz&Exemplar=1&LAN=DE A1 Smith, Katherine R A1 Dahl, Hans-Henrik M A1 Canafoglia, Laura A1 Andermann, Eva A1 Damiano, John A1 Morbin, Michela A1 Bruni, Amalia C A1 Giaccone, Giorgio A1 Cossette, Patrick A1 Saftig, Paul A1 Grötzinger, Joachim A1 Schwake, Michael A1 Andermann, Frederick A1 Staropoli, John F A1 Sims, Katherine B A1 Mole, Sara E A1 Franceschetti, Silvana A1 Alexander, Noreen A A1 Cooper, Jonathan D A1 Chapman, Harold A A1 Carpenter, Stirling A1 Berkovic, Samuel F A1 Bahlo, Melanie PB eScholarship, University of California YR 2013 K1 Clinical Research K1 Batten Disease K1 Neurodegenerative K1 Dementia K1 Acquired Cognitive Impairment K1 Aging K1 Genetics K1 Neurosciences K1 Brain Disorders K1 Rare Diseases K1 2.1 Biological and endogenous factors K1 Aetiology K1 Neurological K1 Adult K1 Animals K1 Anterior Horn Cells K1 Case-Control Studies K1 Cathepsin F K1 Chromosome Mapping K1 Consanguinity K1 DNA Mutational Analysis K1 Exome K1 Female K1 Genetic Association Studies K1 Humans K1 Lod Score K1 Mice K1 Knockout K1 Middle Aged K1 Models K1 Molecular K1 Mutation K1 Missense K1 Neuronal Ceroid-Lipofuscinoses K1 Pedigree K1 Protein Structure K1 Secondary K1 Tertiary K1 Sequence Analysis K1 RNA K1 Biological Sciences K1 Medical and Health Sciences K1 Genetics & Heredity JF qt8872x1bz LK http://dx.doi.org/https://escholarship.org/uc/item/8872x1bz DO https://escholarship.org/uc/item/8872x1bz SF ELIB - SuUB Bremen
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