About: Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy

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About: Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00216224:14110/07:00022280!RIV10-MSM-14110___
http://linked.open...avai/riv/aktivita	P V Z
http://linked.open...avai/riv/aktivity	P(1A8608), P(LC06023), V, Z(MSM0021622415), Z(MZ000064203), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Vondráček, Petr Fajkus, Jiří Fajkusová, Lenka Kozák, L. Zapletalová, Eva
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	409515
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/07:00022280
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	SMN1; SMA; point mutation (en)
http://linked.open.../riv/klicoveSlovo	SMA point mutation SMN1
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[95360EAD032B]
http://linked.open...i/riv/nazevZdroje	Neuromuscular Disorders
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular aspects of diagnostics and therapy of spinal muscular atrophy Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling.
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	17
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Gaillyová, Renata Fajkus, Jiří Vondráček, Petr Jüttnerová, Věra Hedvičáková, Petra Maříková, Taťána Kozák, Libor Zapletalová, Eva Kalina, Zdeněk
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje Klinicko-genetická studie poruch prenatálního a postnatálního vývoje k časné prevenci, diagnóze a léčbě těžkých VVV, chorob a nádorů s genetickou dispozicí
issn	0960-8966
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	14110

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