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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A4043%21RIV10-MZ0-11110___
rdf:type
skos:Concept n17:Vysledek
dcterms:description
DNA diagnosis inside of the group of neuronal ceroid lipofuscinoses of the variant late infantile type with special emphasize to newly defined CLN7 form. DNA diagnosis inside of the group of neuronal ceroid lipofuscinoses of the variant late infantile type with special emphasize to newly defined CLN7 form.
dcterms:title
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
skos:prefLabel
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
skos:notation
RIV/00216208:11110/09:4043!RIV10-MZ0-11110___
n4:aktivita
n8:Z n8:P
n4:aktivity
P(NR8351), Z(MSM0021620806)
n4:cisloPeriodika
Part 3
n4:dodaniDat
n13:2010
n4:domaciTvurceVysledku
n6:6138225 n6:2876361 n6:8846731
n4:druhVysledku
n10:J
n4:duvernostUdaju
n7:S
n4:entitaPredkladatele
n5:predkladatel
n4:idSjednocenehoVysledku
328101
n4:idVysledku
RIV/00216208:11110/09:4043
n4:jazykVysledku
n16:eng
n4:klicovaSlova
CLN7; MFSD8; mutations; neuronal ceroid lipofuscinosis; mutations
n4:klicoveSlovo
n9:mutations n9:MFSD8 n9:neuronal%20ceroid%20lipofuscinosis n9:CLN7
n4:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n4:kontrolniKodProRIV
[C6826BC62E36]
n4:nazevZdroje
Brain
n4:obor
n14:FH
n4:pocetDomacichTvurcuVysledku
3
n4:pocetTvurcuVysledku
12
n4:projekt
n18:NR8351
n4:rokUplatneniVysledku
n13:2009
n4:svazekPeriodika
132
n4:tvurceVysledku
Dvořáková, Lenka Mole, SE Kousi, Maria Elleder, Milan Gokben, S. Minassian, BA Turnbull, J. Yuksel, D. Vlášková, Hana Topcu, M. Siintola, E. Lehesjoki, AE
n4:wos
000264889000024
n4:zamer
n15:MSM0021620806
s:issn
0006-8950
s:numberOfPages
10
n11:organizacniJednotka
11110