The importance of SMA screening tests in newborns - review

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of alfa motor neurons occuring with a frequency of 1 of 11000 births. It leads to muscular weakness and is cause of high rate of mortality in children. 95% cases of SMA are caused by homozygous deletion...

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主要作者: Barbara Rusinowska (Author)
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出版: Kazimierz Wielki University, 2022-07-01T00:00:00Z.
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3rd Floor Main Library

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索引号: A1234.567
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