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Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I–III). All patients have at least one (usually 2–4) copies of a highly homologous gene (SMN2) which pro...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Diversity Preservation International (MDPI)
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039940/ https://www.ncbi.nlm.nih.gov/pubmed/21339974 http://dx.doi.org/10.3390/ijms12010024 |