Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR

Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I–IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 du...

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Detalles Bibliográficos
Autores principales: de Souza Godinho, Fernanda Marques, Bock, Hugo, Gheno, Tailise Conte, Saraiva-Pereira, Maria Luiza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3571419/
https://www.ncbi.nlm.nih.gov/pubmed/23412967

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