Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA patients. We identified a 6.3 kilobase deletion t...

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Publicado no:Hum Genet
Main Authors: Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., Burghes, Arthur H.M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503527/
https://ncbi.nlm.nih.gov/pubmed/30788592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-01983-0
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