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A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by reduced expression of survival of motor neuron (SMN), a protein expressed in humans by two paralogous genes, SMN1 and SMN2. These genes are nearly identical, except for 10 single-nucleotide differences and a 5-nucleotide insertion in...
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| Udgivet i: | Hum Mol Genet |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886194/ https://ncbi.nlm.nih.gov/pubmed/28460014 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx166 |
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