Llwytho...
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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
The National Academy of Sciences
1999
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC26877/ https://ncbi.nlm.nih.gov/pubmed/10339583 |
| Tagiau: |
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