Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling

BACKGROUND: The management options for the autosomal recessive neurodegenerative disorder spinal muscular atrophy (SMA) are evolving; however, their efficacy may require presymptom diagnosis and continuous treatment. To identify presymptomatic SMA patients, we created a DNA-based newborn-screening a...

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發表在:Clin Chem
Main Authors: Dobrowolski, Steven F., Pham, Ha T., Pouch-Downes, Frances, Prior, Thomas W., Naylor, Edwin W., Swoboda, Kathy J.
格式: Artigo
語言:Inglês
出版: 2012
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4334578/
https://ncbi.nlm.nih.gov/pubmed/22490618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2012.183038
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