Publication details
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Periodical |
| Magazine / Source | Neuromuscular Disorders |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | SMN1; SMA; point mutation |
| 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. |
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