Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy

BACKGROUND & OBJECTIVES: Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele...

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Detalles Bibliográficos
Autores principales: Marini, M., Sasongko, T.H., Watihayati, M.S., Atif, A.B., Hayati, F., Gunadi, Zabidi-Hussin, Z.A.M.H., Ravichandran, M., Nishio, H., Zilfalil, B.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3307181/
https://www.ncbi.nlm.nih.gov/pubmed/22382180
http://dx.doi.org/10.4103/0971-5916.93421

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