Correlation between SMN2 copy-number, variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid

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Authors	ZAPLETALOVÁ Eva VONDRÁČEK Petr JEŘÁBKOVÁ Barbora GAILLYOVÁ Renata FAJKUSOVÁ Lenka
Year of publication	2006
Type	Article in Proceedings
Conference	Neuromuscular disorders
MU Faculty or unit	Faculty of Science
Citation
Field	Genetics and molecular biology
Keywords	SMN2 gene; SMA patients;
Description	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.
Related projects:	Molecular basis of cell and tissue regulations