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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Degener Neurol Neuromuscul Dis
Prif Awdur: Jędrzejowska, Maria
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Dove 2020
Pynciau:
Mynediad Ar-lein: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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