| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3080406 | Neuromuscular Disorders | 2007 | 9 Pages |
Abstract
Development and incorporation of the SMN1 dosage assay into the molecular diagnostic service will increase the percentage of cases in which the diagnosis of SMA can be confirmed and allow preclinical and prenatal diagnosis. Further gene characterisation and functional studies would need to be performed in order to further define the molecular basis of SMA in the South African black population.
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Authors
R. Labrum, J. Rodda, A. Krause,