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rdf:type
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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)
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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)
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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)
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skos:notation
| - RIV/00064203:_____/07:1599!RIV08-MZ0-00064203
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(1ET101210513), P(NR7926)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00064203:_____/07:1599
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - neurofibromatosis type 1; NF1; DHPLC; MLPA; mutation detection; fragment analysis system; gap-related domain; spectrum; polymorphisms (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Journal of molecular neuroscience
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
| |
http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Křepelová, Anna
- Maříková, Taťána
- Bendová, Šárka
- Petrák, Bořivoj
- Mušová, Zuzana
- Raušová, Eva
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issn
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number of pages
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is http://linked.open...avai/riv/vysledek
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