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Description
  • Neurofibromatosis type 1 (NF1) is one of the most common inherited human disorders, with an estimated incidence of 1 per 3500 births. In most cases, the disease is caused either by mutation in the NF1 gene, or by a particular or complete deletion of the
  • Neurofibromatosis type 1 (NF1) is one of the most common inherited human disorders, with an estimated incidence of 1 per 3500 births. In most cases, the disease is caused either by mutation in the NF1 gene, or by a particular or complete deletion of the (en)
  • Neurofibromatóza typu 1 (NF1) je jedno z nejčastějších dědičných onemocnění s výskytem 1 : 3500 narozených dětí. (cs)
Title
  • Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
  • Nové mutace NF 1 genu v souboru pacientů z České republiky (cs)
  • Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1 (en)
skos:prefLabel
  • Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
  • Nové mutace NF 1 genu v souboru pacientů z České republiky (cs)
  • Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1 (en)
skos:notation
  • RIV/00064203:_____/07:1599!RIV08-MZ0-00064203
http://linked.open.../vavai/riv/strany
  • 273-279
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(1ET101210513), P(NR7926)
http://linked.open...iv/cisloPeriodika
  • 3
http://linked.open...vai/riv/dodaniDat
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  • 437916
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/07:1599
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • neurofibromatosis type 1; NF1; DHPLC; MLPA; mutation detection; fragment analysis system; gap-related domain; spectrum; polymorphisms (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [F52E7E0CDEED]
http://linked.open...i/riv/nazevZdroje
  • Journal of molecular neuroscience
http://linked.open...in/vavai/riv/obor
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http://linked.open...vavai/riv/projekt
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http://linked.open...v/svazekPeriodika
  • 31
http://linked.open...iv/tvurceVysledku
  • Křepelová, Anna
  • Maříková, Taťána
  • Bendová, Šárka
  • Petrák, Bořivoj
  • Mušová, Zuzana
  • Raušová, Eva
issn
  • 0895-8696
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