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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A4698%21RIV10-MSM-11110___
rdf:type
n10:Vysledek skos:Concept
dcterms: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.
dcterms: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
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
skos:notation
RIV/00216208:11110/09:4698!RIV10-MSM-11110___
n3:aktivita
n12:Z n12:P
n3:aktivity
P(1M0520), Z(MSM0021620806)
n3:cisloPeriodika
6
n3:dodaniDat
n11:2010
n3:domaciTvurceVysledku
n5:9000402 n5:3909581 n5:2507129
n3:druhVysledku
n18:J
n3:duvernostUdaju
n15:S
n3:entitaPredkladatele
n14:predkladatel
n3:idSjednocenehoVysledku
340247
n3:idVysledku
RIV/00216208:11110/09:4698
n3:jazykVysledku
n19:eng
n3:klicovaSlova
MPS IIIC; Sanfilippo syndrome type C; HGSNAT; N-acetyltransferase; lysosome; heparan sulfate; mucopolysaccharidosis; mutation analysis
n3:klicoveSlovo
n9:heparan%20sulfate n9:mutation%20analysis n9:mucopolysaccharidosis n9:MPS%20IIIC n9:Sanfilippo%20syndrome%20type%20C n9:HGSNAT n9:lysosome n9:N-acetyltransferase
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[2F33E2AADD31]
n3:nazevZdroje
Human Mutation
n3:obor
n4:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
12
n3:projekt
n6:1M0520
n3:rokUplatneniVysledku
n11:2009
n3:svazekPeriodika
30
n3:tvurceVysledku
Wraith, James E van Diggelen, Otto P Michelakakis, Helen Kmoch, Stanislav Steiner Mrázová, Lenka Boucher, Renee-Myriam Durand, Stephanie Feldhammer, Matthew Steinfield, Robert Laframboise, Rachel Hřebíček, Martin Pshezhetsky, Alexey V
n3:wos
000267635100009
n3:zamer
n16:MSM0021620806
s:issn
1059-7794
s:numberOfPages
8
n13:organizacniJednotka
11110