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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Identifiers and source
- Literature Corpus work
- dd82f82d-4036-55b9-a53c-d3a60f76d7f5
- DOI
- 10.1186/s43042-019-0044-z
