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...

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Detalles Bibliográficos
Autores principales: Tiziano, Francesco D., Neri, Giovanni, Brahe, Christina
Formato: Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2010
Materias:
Review
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039940/
https://www.ncbi.nlm.nih.gov/pubmed/21339974
http://dx.doi.org/10.3390/ijms12010024

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