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Quantification of PCR Bias Caused by a Single Nucleotide Polymorphism in SMN Gene Dosage Analysis

Approximately 94% of patients with spinal muscular atrophy lack both copies of SMN1 exon 7, and most carriers have only one copy of SMN1 exon 7. We described previously the effect of SMN1/SMN2 heteroduplex formation on SMN gene dosage analysis, which is a multiplex quantitative PCR assay to determin...

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Hlavní autoři: Ogino, Shuji, Wilson, Robert B.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2002
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3278980/
https://ncbi.nlm.nih.gov/pubmed/12411585
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