High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

Establishing nucleic acid-based assays for genetic newborn screening (NBS) provides the possibility to screen for genetically encoded diseases like spinal muscular atrophy (SMA), best before the onset of symptoms. Such assays should be easily scalable to 384-well reactions that make the screening of...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Czibere, Ludwig, Burggraf, Siegfried, Fleige, Tobias, Glück, Birgit, Keitel, Lisa Marie, Landt, Olfert, Durner, Jürgen, Röschinger, Wulf, Hohenfellner, Katharina, Wirth, Brunhilde, Müller-Felber, Wolfgang, Vill, Katharina, Becker, Marc
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906434/
https://ncbi.nlm.nih.gov/pubmed/31363188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0476-4
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