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Statements

Subject Item
n2:RIV%2F00216224%3A14110%2F07%3A00022280%21RIV10-MSM-14110___
rdf:type
skos:Concept n14:Vysledek
dcterms:description
. We performed analysis of point mutations in a set of our patients with suspicion of SMA and without homozygous deletion of the SMN1 gene. A quantitative test determining SMN1 copy number (using real-time PCR and/or MLPA analysis) was performed in 301 patients and only 1 SMN1 copy was detected in 14 of them. When these 14 patients were screened for the presence of point mutations we identified 6 mutations. . We performed analysis of point mutations in a set of our patients with suspicion of SMA and without homozygous deletion of the SMN1 gene. A quantitative test determining SMN1 copy number (using real-time PCR and/or MLPA analysis) was performed in 301 patients and only 1 SMN1 copy was detected in 14 of them. When these 14 patients were screened for the presence of point mutations we identified 6 mutations.
dcterms:title
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
skos:prefLabel
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
skos:notation
RIV/00216224:14110/07:00022280!RIV10-MSM-14110___
n3:aktivita
n16:V n16:Z n16:P
n3:aktivity
P(1A8608), P(LC06023), V, Z(MSM0021622415), Z(MZ000064203), Z(MZ0FNM2005)
n3:cisloPeriodika
6
n3:dodaniDat
n11:2010
n3:domaciTvurceVysledku
n15:4296648 n15:1708694 n15:3196178 n15:5589797 n15:8202575
n3:druhVysledku
n17:J
n3:duvernostUdaju
n8:S
n3:entitaPredkladatele
n19:predkladatel
n3:idSjednocenehoVysledku
409515
n3:idVysledku
RIV/00216224:14110/07:00022280
n3:jazykVysledku
n18:eng
n3:klicovaSlova
SMN1; SMA; point mutation
n3:klicoveSlovo
n10:SMN1 n10:SMA n10:point%20mutation
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[95360EAD032B]
n3:nazevZdroje
Neuromuscular Disorders
n3:obor
n7:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
10
n3:projekt
n12:1A8608 n12:LC06023
n3:rokUplatneniVysledku
n11:2007
n3:svazekPeriodika
17
n3:tvurceVysledku
Vondráček, Petr Fajkus, Jiří Maříková, Taťána Jüttnerová, Věra Kozák, Libor Gaillyová, Renata Zapletalová, Eva Kalina, Zdeněk Hedvičáková, Petra Fajkusová, Lenka
n3:zamer
n13:MZ000064203 n13:MZ0FNM2005 n13:MSM0021622415
s:issn
0960-8966
s:numberOfPages
6
n9:organizacniJednotka
14110