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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F02%3A00000010%21RIV%2F2003%2FMSM%2F111303%2FN
rdf:type
skos:Concept n13:Vysledek
dcterms:description
The mutation Glu97Val of MPZ gene result in a phenotype with progressive hearing loss, abnormal pupillary reaction(adie's) and no pes cavus deformity.The follow up conduction studies showed despite late onset of clinical symptoms rather fast p The mutation Glu97Val of MPZ gene result in a phenotype with progressive hearing loss, abnormal pupillary reaction(adie's) and no pes cavus deformity.The follow up conduction studies showed despite late onset of clinical symptoms rather fast p
dcterms:title
Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero
skos:prefLabel
Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero
skos:notation
RIV/00216208:11130/02:00000010!RIV/2003/MSM/111303/N
n3:strany
40;41
n3:aktivita
n15:Z
n3:aktivity
Z(MSM 111300003)
n3:cisloPeriodika
Suppl. 1
n3:dodaniDat
n9:2003
n3:domaciTvurceVysledku
n4:8510210 n4:1548298 n4:1356453
n3:druhVysledku
n18:J
n3:duvernostUdaju
n14:S
n3:entitaPredkladatele
n11:predkladatel
n3:idSjednocenehoVysledku
652070
n3:idVysledku
RIV/00216208:11130/02:00000010
n3:jazykVysledku
n17:eng
n3:klicovaSlova
Longitudinal;electrophysiological;study;patient;dominant;deafness;onset;axonal;caused;Glu97Val;mutation;myelin;protein;zero
n3:klicoveSlovo
n7:dominant n7:electrophysiological n7:myelin n7:deafness n7:caused n7:axonal n7:Glu97Val n7:protein n7:Longitudinal n7:mutation n7:zero n7:patient n7:onset n7:study
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[19EBDAC62D22]
n3:nazevZdroje
Journal of the Neurological Sciences
n3:obor
n6:FE
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
5
n3:pocetUcastnikuAkce
0
n3:pocetZahranicnichUcastnikuAkce
0
n3:rokUplatneniVysledku
n9:2002
n3:svazekPeriodika
199
n3:tvurceVysledku
Seeman, Pavel Bojar, Martin Čtvrtečková, Markéta
n3:zamer
n16:MSM%20111300003
s:issn
0022-510X
s:numberOfPages
2
n12:organizacniJednotka
11130