A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy (SMA). Analysis of transcripts from SMN1/SMN2 hybrid genes and a new SMN1 mutation showed a direct relationship between prese...
Spremljeno u:
| Izdano u: | Proc Natl Acad Sci U S A |
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| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
1999
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC26877/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10339583/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.96.11.6307 |
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