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Identification of an agrin mutation that causes congenital ..:
Huzé, C
;
Bauché, S
;
Richard, P
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2009.06.015. , 2009
Link:
https://serval.unil.ch/notice/serval:BIB_7B8117A7C642
RT Journal T1
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
UL https://suche.suub.uni-bremen.de/peid=base-ftunivlausanne:oai:serval.unil.ch:BIB_7B8117A7C642&Exemplar=1&LAN=DE A1 Huzé, C A1 Bauché, S A1 Richard, P A1 Chevessier, F A1 Goillot, E A1 Gaudon, K A1 Ben Ammar, A A1 Chaboud, A A1 Grosjean, I A1 Lecuyer, H.A A1 Bernard, V A1 Rouche, A A1 Alexandri, N A1 Kuntzer, T A1 Fardeau, M A1 Fournier, E A1 Brancaccio, A A1 Rüegg, M.A A1 Koenig, J A1 Eymard, B A1 Schaeffer, L A1 Hantaï, D YR 2009 K1 Adult K1 Agrin/chemistry K1 Agrin/genetics K1 Animals K1 Biopsy K1 Cell Line K1 DNA Mutational Analysis K1 Dystroglycans/metabolism K1 Female K1 Humans K1 Male K1 Models K1 Chemical K1 Muscle Fibers K1 Skeletal/cytology K1 Skeletal/metabolism K1 Muscle K1 Skeletal/pathology K1 Mutation K1 Missense K1 Myasthenic Syndromes K1 Congenital/genetics K1 Neuromuscular Junction/genetics K1 Neuromuscular Junction/metabolism K1 Pedigree K1 Protein Structure K1 Tertiary K1 Rats K1 Receptors K1 Cholinergic/genetics K1 Cholinergic/metabolism K1 Recombinant Proteins/chemistry K1 Recombinant Proteins/metabolism K1 Synapses/metabolism JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2009.06.015 LK http://dx.doi.org/https://serval.unil.ch/notice/serval:BIB_7B8117A7C642 DO https://serval.unil.ch/notice/serval:BIB_7B8117A7C642 SF ELIB - SuUB Bremen
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