High-throughput screening reveals novel mutations in spinal muscular atrophy patients
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA. Methods Eighty-three whole blood samples were collec...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-11-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13052-020-00925-1 |