Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

BACKGROUND: Spinal muscular atrophy (SMA) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, SMN1. Most chromosome 5 homologs have a functional gene and dysfunctional copy, SMN2, with a single synonymous base substitution that results in faulty RNA splici...

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Udgivet i:BMC Med Genet
Main Authors: Larson, Jessica L., Silver, Ari J., Chan, Dalin, Borroto, Carlos, Spurrier, Brett, Silver, Lee M.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Technical Advance
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4625734/
https://ncbi.nlm.nih.gov/pubmed/26510457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0246-2
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