Heteroduplex Formation in SMN Gene Dosage Analysis

Most spinal muscular atrophy patients lack both copies of SMN1 exon 7 and most carriers have only one copy of SMN1 exon 7. We investigated the effect of SMN1/SMN2 heteroduplex formation on SMN gene dosage analysis, which is an assay to determine copy number of SMN1 exon 7 that utilizes multiplex qua...

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Bibliographic Details
Main Authors: Ogino, Shuji, Leonard, Debra G. B., Rennert, Hanna, Gao, Sizhen, Wilson, Robert B.
Format: Artigo
Language:Inglês
Published: American Society for Investigative Pathology 2001
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1906961/
https://ncbi.nlm.nih.gov/pubmed/11687598
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