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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F12%3A12928%21RIV13-MZ0-11110___
rdf:type
n10:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1016/j.gene.2012.02.004
dcterms:description
The article characterizes the impacts of a novel frame shift mutation in LAMP2 gene on protein sorting and stability and correlates these findings with Danon disease phenotype in the studied family. The benefits of use of peripheral white blood cells in the diagnostic protocol of Danon disease in female heterozygotes by flow cytometry are unambiguously demostrated. In addition, it is presented that LAMP2 deficit in CD8+ T lymphocytes does not alter lytic granules exocytosis. The article characterizes the impacts of a novel frame shift mutation in LAMP2 gene on protein sorting and stability and correlates these findings with Danon disease phenotype in the studied family. The benefits of use of peripheral white blood cells in the diagnostic protocol of Danon disease in female heterozygotes by flow cytometry are unambiguously demostrated. In addition, it is presented that LAMP2 deficit in CD8+ T lymphocytes does not alter lytic granules exocytosis.
dcterms:title
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
skos:prefLabel
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
skos:notation
RIV/00216208:11110/12:12928!RIV13-MZ0-11110___
n10:predkladatel
n18:orjk%3A11110
n3:aktivita
n17:I n17:P n17:V n17:Z
n3:aktivity
I, P(NS10342), P(NS9996), V, Z(MSM0021620806)
n3:cisloPeriodika
2
n3:dodaniDat
n14:2013
n3:domaciTvurceVysledku
n13:8846731 n13:8415285 n13:6121470 n13:2876361 n13:6138225 n13:2446561
n3:druhVysledku
n16:J
n3:duvernostUdaju
n20:S
n3:entitaPredkladatele
n7:predkladatel
n3:idSjednocenehoVysledku
129558
n3:idVysledku
RIV/00216208:11110/12:12928
n3:jazykVysledku
n15:eng
n3:klicovaSlova
Danon disease; Lysosomal-associated membrane protein 2; Cardiomyopathy; White blood cells; Polychromatic flow cytometry; X-chromosome inactivation
n3:klicoveSlovo
n4:White%20blood%20cells n4:Cardiomyopathy n4:Lysosomal-associated%20membrane%20protein%202 n4:Danon%20disease n4:X-chromosome%20inactivation n4:Polychromatic%20flow%20cytometry
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[C2609A486467]
n3:nazevZdroje
Gene
n3:obor
n5:EB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
9
n3:projekt
n6:NS9996 n6:NS10342
n3:rokUplatneniVysledku
n14:2012
n3:svazekPeriodika
498
n3:tvurceVysledku
Majer, Filip Elleder, Milan Dvořáková, Lenka Stolnaja, Larisa Kubánek, Miroslav Sikora, Jakub Krol, Ladislav Vlášková, Hana Kalina, Tomáš
n3:wos
000302888700007
n3:zamer
n19:MSM0021620806
s:issn
0378-1119
s:numberOfPages
13
n8:organizacniJednotka
11110