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• W2028258791 endingPage "257" @default.
• W2028258791 startingPage "248" @default.
• W2028258791 abstract "Abstract Proximal spinal muscular atrophy ( SMA ) is an early‐onset motor neuron disease characterized by loss of α ‐motor neurons and associated muscle atrophy. SMA is caused by deletion or other disabling mutation of survival motor neuron 1 ( SMN 1 ). In the human genome, a large duplication of the SMN ‐containing region gives rise to a second copy of this gene ( SMN 2 ) that is distinguishable by a single nucleotide change in exon 7. Within the SMA population, there is substantial variation in SMN 2 copy number; in general, those individuals with SMA who have a high SMN 2 copy number have a milder disease. Because SMN 2 functions as a disease modifier, its accurate copy number determination may have clinical relevance. In this study, we describe the development of an assay to assess SMN 1 and SMN 2 copy numbers in DNA samples using an array‐based digital PCR ( dPCR ) system. This dPCR assay can accurately and reliably measure the number of SMN 1 and SMN 2 copies in DNA samples. In a cohort of SMA patient‐derived cell lines, the assay confirmed a strong inverse correlation between SMN 2 copy number and disease severity. Array dPCR is a practical technique to determine, accurately and reliably, SMN 1 and SMN 2 copy numbers from SMA samples." @default.
• W2028258791 created "2016-06-24" @default.
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• W2028258791 date "2015-03-21" @default.
• W2028258791 modified "2023-10-16" @default.
• W2028258791 title "<i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR" @default.
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• W2028258791 doi "https://doi.org/10.1002/mgg3.141" @default.
• W2028258791 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4521962" @default.
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