Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

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作者： Stabley, Deborah L. ^[1] ; Holbrook, Jennifer ^[2] ; Scavina, Mena ^[3] ; Crawford, Thomas O. ^[4] ; Swoboda, Kathryn J. ^[5] ; Robbins, Katherine M. ; Butchbach, Matthew E. R.

作者单位： Nemours Alfred I DuPont Hosp Children, Nemours Biomol Core Lab, Nemours Biomed Res, Wilmington, DE ^[1] Massachusetts Gen Hosp, Ctr Genom Med, Dept Neurol, Boston, MA 02114 USA ^[2] Nemours Alfred I DuPont Hosp Children, Div Neurol, Wilmington, DE USA ^[3] Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA ^[4] Nemours Alfred I DuPont Hosp Children, Nemours Biomed Res, Ctr Appl Clin Genom, Wilmington, DE ^[5]

关键词 Spinal muscular atrophy CN SMN1 SMN2 Array digital PCR Copy number variation Gene conversion Partial deletion

发布时间 2021-06-09

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