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

ESTEPHAN, E.; ZAMBON, A.; MARCHIORI, P.; SILVA, A.; MORENO, C.; REED, U.; TOPF, A.; LOCHMUELLER, H.; ZANOTELIL, E.

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. ZAMBON, A. MARCHIORI, P. SILVA, A. MORENO, C. REED, U. TOPF, A. LOCHMUELLER, H. ZANOTELIL, E.
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