About: Hot-spot residue in small heat shock protein 22 causes distal motor neuropathy.     Goto   Sponge   NotDistinct   Permalink

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Description
  • Ve dvou rodinách s distální hereditární motorickou neuropatií typ II s vazbou na 12.chromozom jsme prokázali stejnou mutaci(K141N) v malém heat-shock proteinu 22.V dalších 2 menších rodinách jsme prokázali druhou mutaci(K141E). (cs)
  • In two pedigrees with distal hereditary motor neuropathy type II linked to chromosome12q24-3, we identified the same mutation(K141N) in small heat-shock protein 22-kDa protein 8.We found a second mutation(K141E) in two smaller families.
  • In two pedigrees with distal hereditary motor neuropathy type II linked to chromosome12q24-3, we identified the same mutation(K141N) in small heat-shock protein 22-kDa protein 8.We found a second mutation(K141E) in two smaller families. (en)
Title
  • Hot-spot v malém heat shock proteinu 22 jako příčina distální dědičné neuropatie (cs)
  • Hot-spot residue in small heat shock protein 22 causes distal motor neuropathy.
  • Hot-spot residue in small heat shock protein 22 causes distal motor neuropathy. (en)
skos:prefLabel
  • Hot-spot v malém heat shock proteinu 22 jako příčina distální dědičné neuropatie (cs)
  • Hot-spot residue in small heat shock protein 22 causes distal motor neuropathy.
  • Hot-spot residue in small heat shock protein 22 causes distal motor neuropathy. (en)
skos:notation
  • RIV/00216208:11130/04:00006778!RIV/2005/MSM/111305/N
http://linked.open.../vavai/riv/strany
  • 597;601
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NF6504), Z(MSM 111300003)
http://linked.open...iv/cisloPeriodika
  • 6
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
  • 566717
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/04:00006778
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Hot-spot; residue; small; shock; protein; causes; distal; motor; neuropathy (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [963230AB0AFC]
http://linked.open...i/riv/nazevZdroje
  • Nature Genetics
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
  • 36
http://linked.open...iv/tvurceVysledku
  • Seeman, Pavel
http://linked.open...n/vavai/riv/zamer
issn
  • 1061-4036
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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