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The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of ~1:50), SMA is one of the most common severe childhood‐onset disea...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000938/ https://www.ncbi.nlm.nih.gov/pubmed/35289093 http://dx.doi.org/10.1002/mgg3.1897 |