About: Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type
Description
  • A Czech family with three individuals carrying a novel mutation in myelin protein zero gene(P0) is reported.The teo eldest carriers developed progressive sensorineural hearing loss and abnoermal pupillary reaction at age 18.
  • A Czech family with three individuals carrying a novel mutation in myelin protein zero gene(P0) is reported.The teo eldest carriers developed progressive sensorineural hearing loss and abnoermal pupillary reaction at age 18. (en)
  • Prezentace české rodiny se třemi členy s novou mutací v proteinu P0. Dva starší nositelé vyvinuli poruchu sluchu před nástupem klasického obrazu CMT neuropatie. Autoři ukazují, že porucha sluchu může být prvním symptomem mutace v proteinu P0. (cs)
Title
  • Ztráta sluchu jako první příznak pozdně nastupující CMT choroby způsobené novou mutací proteinu P0 (cs)
  • Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
  • Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation (en)
skos:prefLabel
  • Ztráta sluchu jako první příznak pozdně nastupující CMT choroby způsobené novou mutací proteinu P0 (cs)
  • Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
  • Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation (en)
skos:notation
  • RIV/00216208:11130/04:00006834!RIV/2005/MSM/111305/N
http://linked.open.../vavai/riv/strany
  • 733;735
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NF6504), Z(MSM 111300003)
http://linked.open...iv/cisloPeriodika
  • 4
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 565989
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/04:00006834
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Hearing; first; feature; late-onset; axonal; disease; novel; mutation (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [D6EC9C2E707A]
http://linked.open...i/riv/nazevZdroje
  • Neurology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 63
http://linked.open...iv/tvurceVysledku
  • Seeman, Pavel
http://linked.open...n/vavai/riv/zamer
issn
  • 0028-3878
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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