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Article

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

2020-01-21

Abstract excerpt

Abstract Background Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease. Although SMN1 was identified as the SMA disease-determining gene, modifier genes mapped to 5q13 were affirmed to play a crucial role in determination of disease severity and used as a target f...

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Literature Corpus work
dd82f82d-4036-55b9-a53c-d3a60f76d7f5
DOI
10.1186/s43042-019-0044-z
Open publication

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Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patientsDOI 10.1186/s43042-019-0044-z
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