ZAPLETALOVÁ, Eva, Petr VONDRÁČEK, Barbora JEŘÁBKOVÁ, Renata GAILLYOVÁ and Lenka FAJKUSOVÁ. Correlation between SMN2 copy-number, variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid. In Neuromuscular disorders. USA: Pergamon, 2006, p. 652. ISSN 0960-8966.
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Basic information
Original name Correlation between SMN2 copy-number, variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid
Name in Czech Korelace mezi počtem kopií genu SMN2, změnami exprese mRNA genu SMN2 a klinickými nálezy u pacientů s SMA, kteří jsou léčemi fenylbutyrátem a valproátem
Authors ZAPLETALOVÁ, Eva (203 Czech Republic), Petr VONDRÁČEK (203 Czech Republic), Barbora JEŘÁBKOVÁ (203 Czech Republic), Renata GAILLYOVÁ (203 Czech Republic) and Lenka FAJKUSOVÁ (203 Czech Republic, guarantor).
Edition USA, Neuromuscular disorders, p. 652-652, 2006.
Publisher Pergamon
Other information
Original language English
Type of outcome Proceedings paper
Field of Study Genetics and molecular biology
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 2.615
RIV identification code RIV/00216224:14310/06:00018005
Organization unit Faculty of Science
ISSN 0960-8966
UT WoS 000241369400039
Keywords in English SMN2 gene; SMA patients;
Tags SMA patients, SMN2 gene
Tags International impact
Changed by Changed by: doc. MUDr. Petr Vondráček, Ph.D., učo 24042. Changed: 25/6/2008 14:25.
Abstract
The work is concerned with results of determination of SMN2 gene copy-number; correlation of SMN2 copy-number/clinical stage; corelation of SMN2 copy number/ full-length SMN2 mRNA level; and monitoring PBA and VA treatment in case of 25 SMA patients.
Abstract (in Czech)
Práce je zaměřena na výsledky, které se týkají korelace mezi stanoveným počtem kopií genu SMN2 a klinickým stavem pacientů s SMA, korelace mezi počtem kopií genu SMN2 a hladinou mRNA genu SMN2, a monitorováním léčby 25 pacientů s SMA PBA a VPA.
Links
MSM0021622415, plan (intention)Name: Molekulární podstata buněčných a tkáňových regulací
Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations
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