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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Библиографические подробности
Опубликовано в: :Hum Genet
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 2019
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Article
Online-ссылка: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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