Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy |
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| Authors: | Sasongko Teguh Haryo Gunadi Zilfalil Bin Alwi Zabidi-Hussin Zamh |
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| Affiliation: | Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, Kelantan, Malaysia. teguhharyosasongko@yahoo.com |
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| 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. |
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