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rdf:type
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Description
| - The article describes all known human alpha-Glucosaminide N-Acecyltransferase (HGSNAT) mutations identified in patients with mucoplysaccharidosis type IIIC.
- The article describes all known human alpha-Glucosaminide N-Acecyltransferase (HGSNAT) mutations identified in patients with mucoplysaccharidosis type IIIC. (en)
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Title
| - Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene
- Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene (en)
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skos:prefLabel
| - Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene
- Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene (en)
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skos:notation
| - RIV/00216208:11110/09:4698!RIV10-MSM-11110___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(1M0520), Z(MSM0021620806)
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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/00216208:11110/09:4698
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - MPS IIIC; Sanfilippo syndrome type C; HGSNAT; N-acetyltransferase; lysosome; heparan sulfate; mucopolysaccharidosis; mutation analysis (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
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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
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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
| - Kmoch, Stanislav
- Hřebíček, Martin
- Steiner Mrázová, Lenka
- Feldhammer, Matthew
- Michelakakis, Helen
- Boucher, Renee-Myriam
- Durand, Stephanie
- Laframboise, Rachel
- Pshezhetsky, Alexey V
- Steinfield, Robert
- Wraith, James E
- van Diggelen, Otto P
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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is http://linked.open...avai/riv/vysledek
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