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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakn...
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| Publicat a: | Brain |
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4306822/ https://ncbi.nlm.nih.gov/pubmed/25497877 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu356 |
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