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Description
  • We performed analysis of point mutations in SMN1 gene at a set of patients in suspition of SMA and bearing one copy of the SMN1 gene. The assay based on Long-range PCR, nested PCR of individual exons and sequencing was performed at 14 patients. Point mutations were identified at 6 of them. Two mutations have not been published yet.
  • We performed analysis of point mutations in SMN1 gene at a set of patients in suspition of SMA and bearing one copy of the SMN1 gene. The assay based on Long-range PCR, nested PCR of individual exons and sequencing was performed at 14 patients. Point mutations were identified at 6 of them. Two mutations have not been published yet. (en)
Title
  • Analysis of point mutations in the SMN1 gene in Czech SMA patients
  • Analysis of point mutations in the SMN1 gene in Czech SMA patients (en)
skos:prefLabel
  • Analysis of point mutations in the SMN1 gene in Czech SMA patients
  • Analysis of point mutations in the SMN1 gene in Czech SMA patients (en)
skos:notation
  • RIV/00216224:14110/07:00019179!RIV10-MZ0-14110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(1A8608), Z(MSM0021622415)
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
  • 409514
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14110/07:00019179
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • SMN1 gene; SMA (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...ontrolniKodProRIV
  • [FE4E809BD72A]
http://linked.open...v/mistoKonaniAkce
  • Messina
http://linked.open...i/riv/mistoVydani
  • Oxford
http://linked.open...i/riv/nazevZdroje
  • Neuromuscular Disorders
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...iv/tvurceVysledku
  • Fajkusová, Lenka
  • Vondráček, Petr
  • Zapletalová, Eva
  • Hedvičáková, P.
http://linked.open...vavai/riv/typAkce
http://linked.open.../riv/zahajeniAkce
http://linked.open...n/vavai/riv/zamer
issn
  • 0960-8966
number of pages
http://purl.org/ne...btex#hasPublisher
  • Pergamon-Elsevier Science Ltd
http://localhost/t...ganizacniJednotka
  • 14110
is http://linked.open...avai/riv/vysledek of
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