A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis

Characterizing heterozygous insertions or deletions in genes by PCR and Sanger sequencing can be a challenge due to overlapping sequencing traces produced by overlapping templates. This is particularly problematic for clinical diagnostic laboratories, because mutations must be precisely characterize...

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Autors principals: Hjelm, Lawrence N., Chin, Ephrem L.H., Hegde, Madhuri R., Coffee, Bradford W., Bean, Lora J.H.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2010
Matèries:
Regular Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928424/
https://ncbi.nlm.nih.gov/pubmed/20639189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.100011
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