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...

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Detalles Bibliográficos
Autores principales: Ware, Gardenier, Miller, Cecelia, Jones, Dan, Avenarius, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
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

Internet

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

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