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Description
  • Byly prioritně nalezeny dvě patogeneticky významné inzerce repetitivní sekvence Alu, které jsou příčinou rozvoje cystické fibrózy u českého pacienta s cystickou fibrózou. (cs)
  • Background: LINE-1 (long interspersed element-1) or L1-mediated retrotransposition is a potent force in human genome evolution and an occasional cause of human genetic disease.
  • Background: LINE-1 (long interspersed element-1) or L1-mediated retrotransposition is a potent force in human genome evolution and an occasional cause of human genetic disease. (en)
Title
  • Detection of two Alu insertions in the CFTR gene
  • Detection of two Alu insertions in the CFTR gene (en)
  • Nález dvou inzercí sekrvence Alu v CFTR genu (cs)
skos:prefLabel
  • Detection of two Alu insertions in the CFTR gene
  • Detection of two Alu insertions in the CFTR gene (en)
  • Nález dvou inzercí sekrvence Alu v CFTR genu (cs)
skos:notation
  • RIV/00216208:11130/08:4070!RIV09-MZ0-11130___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika
  • 1
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
  • 362851
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/08:4070
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Alu sequence; cystic fibrosis; gross insertion; L1; LINE-1; retrotransposition; serial replication slippage; cystic-fibrosis mutations; large genomic deletion; l1 retrotransposition; rearrangements; endonuclease; mechanisms; integration; disease; events (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
  • [53E437D8F6B0]
http://linked.open...i/riv/nazevZdroje
  • Journal of Cystic Fibrosis
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 7
http://linked.open...iv/tvurceVysledku
  • Macek jr., Milan
  • Piskáčková, Tereza
  • Fila, Libor
http://linked.open...ain/vavai/riv/wos
  • 000253185300006
http://linked.open...n/vavai/riv/zamer
issn
  • 1569-1993
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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