Publication: Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
Date
Date
Date
Citations
Magyar, I., Colman, D., Arnold, E., Baumgartner, D., Bottani, A., Fokstuen, S., Addor, M. C., Berger, W., Carrel, T., Steinmann, B., & Mátyás, G. (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30, 1355–1364. https://doi.org/10.1002/humu.21058
Abstract
Abstract
Abstract
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 correlation between expected and observed relative allele frequencies. This sequencing assay, which can also be used for the
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Magyar, I
- Colman, D
- Arnold, E
- Baumgartner, D
- Bottani, A
- Fokstuen, S
- Addor, M C
- Berger, W
- Carrel, T
- Steinmann, B
- Mátyás, G
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
Additional Information
Additional Information
Additional Information
OA Status
OA Status
OA Status
Publisher DOI
Metrics
Downloads
Views
Citations
Magyar, I., Colman, D., Arnold, E., Baumgartner, D., Bottani, A., Fokstuen, S., Addor, M. C., Berger, W., Carrel, T., Steinmann, B., & Mátyás, G. (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30, 1355–1364. https://doi.org/10.1002/humu.21058
