The p.N88K mutation in the RAPSN gene in Brazilian patients with congenital myasthenic syndrome

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author ESTEPHAN, E. FMUSP-HC
ZAMBON, A. FMUSP-HC
MARCHIORI, P. FMUSP-HC
SILVA, A. FMUSP-HC
MORENO, C. FMUSP-HC
REED, U. FMUSP-HC
TOPF, A.
LOCHMUELLER, H.
ZANOTELIL, E. FMUSP-HC
dc.date.issued 2018
dc.identifier.citation NEUROMUSCULAR DISORDERS, v.28, suppl.2, p.S50-S50, 2018
dc.identifier.issn 0960-8966
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/30498
dc.language.iso eng
dc.publisher PERGAMON-ELSEVIER SCIENCE LTD
dc.relation.ispartof Neuromuscular Disorders
dc.rights restrictedAccess
dc.title The p.N88K mutation in the RAPSN gene in Brazilian patients with congenital myasthenic syndrome
dc.type conferenceObject
dc.rights.holder Copyright PERGAMON-ELSEVIER SCIENCE LTD
dc.description.conferencedate OCT 02-06, 2018
dc.description.conferencelocal Mendoza, ARGENTINA
dc.description.conferencename 23rd International Annual Congress of the World-Muscle-Society (WMS)
dc.description.group LIM/15
dc.description.group LIM/45
dc.identifier.doi 10.1016/j.nmd.2018.06.096
dc.type.category meeting abstract
dc.type.version publishedVersion
hcfmusp.author ESTEPHAN, E.:FM:
hcfmusp.author ZAMBON, A.:HC:ICHC
hcfmusp.author MARCHIORI, P.:FM:MNE
hcfmusp.author SILVA, A.:HC:ICHC
hcfmusp.author MORENO, C.:HC:ICHC
hcfmusp.author REED, U.:FM:MNE
hcfmusp.author ZANOTELIL, E.:FM:MNE
hcfmusp.author.external · TOPF, A.:Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England
· LOCHMUELLER, H.:Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England
hcfmusp.origem.id WOS:000449126600077
hcfmusp.publisher.city OXFORD
hcfmusp.publisher.country ENGLAND
dc.description.index MEDLINE
dc.identifier.eissn 1873-2364
hcfmusp.citation.wos 0
hcfmusp.affiliation.country Brasil
hcfmusp.affiliation.country Inglaterra


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