| Literature DB >> 21338334 |
Teguh Haryo Sasongko1, Bin Alwi Zilfalil, Zamh Zabidi-Hussin.
Abstract
The authors suggest a simplification for the current molecular genetic testing of spinal muscular atrophy (SMA). Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of SMA. It is based on sole contribution of survival motor neuron 1 (SMN1) exon 7 to SMA pathogenesis.Entities:
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Year: 2011 PMID： 21338334 DOI： 10.3109/01677063.2011.559561
Source DB: PubMed Journal: J Neurogenet ISSN： 0167-7063 Impact factor: 1.250