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Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy

Spinal muscular atrophy 5q (SMA5q) is one of the most severe and common genetic diseases. In the natural course, the disease leads to premature death (in acute forms) or severe motor disability (in chronic forms). As the genetic basis of SMA is very homogenous, the diagnostics are based entirely on...

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Vydáno v:Degener Neurol Neuromuscul Dis
Hlavní autor: Jędrzejowska, Maria
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7751307/
https://ncbi.nlm.nih.gov/pubmed/33364872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/DNND.S246907
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