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Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy
Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying the same SMN1 mutations as their affected siblings, thereby sug...
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| Yayımlandı: | Science |
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| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2008
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4908855/ https://ncbi.nlm.nih.gov/pubmed/18440926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1155085 |
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