Publication details
Correlation between SMN2 copy-number, variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid
| Authors | |
|---|---|
| Year of publication | 2006 |
| Type | Article in Proceedings |
| Conference | Neuromuscular disorders |
| MU Faculty or unit | |
| 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: |