Publication details
Analysis of point mutations in the SMN1 gene in Czech SMA patients
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | Neuromuscular Disorders |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | SMN1 gene; SMA |
| Description | We performed analysis of point mutations in SMN1 gene at a set of patients in suspition of SMA and bearing one copy of the SMN1 gene. The assay based on Long-range PCR, nested PCR of individual exons and sequencing was performed at 14 patients. Point mutations were identified at 6 of them. Two mutations have not been published yet. |
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