Article
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Human mutation - 1 Sept 2009
Magyar István, Colman Dvora, Arnold Eliane, Baumgartner Daniela, Bottani Armand, Fokstuen Siv, Addor Marie-Claude, Berger Wolfgang, Carrel Thierry, Steinmann Beat, Mátyás Gábor
Abstract excerpt
We improved, evaluated, and used Sanger sequencing for quantification of single nucleotide polymorphism (SNP) variants in transcripts and gDNA samples. This improved assay resulted in highly reproducible relative allele frequencies (e.g., for a heterozygous gDNA 50.0+/-1.4%, and for a missense mutation-bearing transcript 46.9+/-3.7%) with a lower detection limit of 3-9%. It provided excellent accuracy and linear...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.