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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...

詳細記述

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書誌詳細
出版年:Degener Neurol Neuromuscul Dis
第一著者: Jędrzejowska, Maria
フォーマット: Artigo
言語:Inglês
出版事項: Dove 2020
主題:
オンライン・アクセス: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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