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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F07%3A1536%21RIV08-MZ0-00064203
rdf:type
skos:Concept n12:Vysledek
dcterms:description
Variabilita neurálního fenotypu Niemann-Pickovy choroby v důsledku zakladatelské romské mutace. Niemann-Pick disease (NPD), an autosomal recessive disorder resulting from mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is subdivided into the acute, lethal neuronopathic type A, and the chronic visceral type B, explained by the diffe Niemann-Pick disease (NPD), an autosomal recessive disorder resulting from mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is subdivided into the acute, lethal neuronopathic type A, and the chronic visceral type B, explained by the diffe
dcterms:title
Velmi variabilní neurální postižení u Nieman-Pickovy nemoci, sfingomyelinása negativní v důsledku staré romské mutace. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
skos:prefLabel
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Velmi variabilní neurální postižení u Nieman-Pickovy nemoci, sfingomyelinása negativní v důsledku staré romské mutace.
skos:notation
RIV/00064203:_____/07:1536!RIV08-MZ0-00064203
n3:strany
1050-1061
n3:aktivita
n17:P
n3:aktivity
P(NR8330)
n3:cisloPeriodika
Part 4
n3:dodaniDat
n14:2008
n3:domaciTvurceVysledku
n11:8510210
n3:druhVysledku
n4:J
n3:duvernostUdaju
n8:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
424135
n3:idVysledku
RIV/00064203:_____/07:1536
n3:jazykVysledku
n15:eng
n3:klicovaSlova
intermediate Niemann-Pick disease; neurological manifestations; Gypsy founder mutation; human acid sphingomyelinase; simple mendelian disorders; plasma chitotriosidase; intermediate phenotype; nucleotide-sequence; storage disorders; degradation rate; complex traits; population; prevalence
n3:klicoveSlovo
n6:complex%20traits n6:prevalence n6:intermediate%20Niemann-Pick%20disease n6:human%20acid%20sphingomyelinase n6:intermediate%20phenotype n6:storage%20disorders n6:degradation%20rate n6:neurological%20manifestations n6:population n6:nucleotide-sequence n6:Gypsy%20founder%20mutation n6:simple%20mendelian%20disorders n6:plasma%20chitotriosidase
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[ADBC6603E809]
n3:nazevZdroje
Brain
n3:obor
n13:FH
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
15
n3:projekt
n10:NR8330
n3:rokUplatneniVysledku
n14:2007
n3:svazekPeriodika
130
n3:tvurceVysledku
Seeman, Pavel
s:issn
0006-8950
s:numberOfPages
12