About: Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene     Goto   Sponge   NotDistinct   Permalink

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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)
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)
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)
skos:notation
  • RIV/00216208:11110/09:4698!RIV10-MSM-11110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(1M0520), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 6
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
  • 340247
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11110/09:4698
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • MPS IIIC; Sanfilippo syndrome type C; HGSNAT; N-acetyltransferase; lysosome; heparan sulfate; mucopolysaccharidosis; mutation analysis (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [2F33E2AADD31]
http://linked.open...i/riv/nazevZdroje
  • Human Mutation
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...v/svazekPeriodika
  • 30
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
http://linked.open...ain/vavai/riv/wos
  • 000267635100009
http://linked.open...n/vavai/riv/zamer
issn
  • 1059-7794
number of pages
http://localhost/t...ganizacniJednotka
  • 11110
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