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SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data
Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2, and the...
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| Pubblicato in: | Hum Mutat |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7756735/ https://ncbi.nlm.nih.gov/pubmed/33058415 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24120 |
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