Cargando…
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease
'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untranslated region. We have performed a meta-analysis of the 119 nonstop mutation...
Autores principales: | Hamby, Stephen E, Thomas, Nick ST, Cooper, David N, Chuzhanova, Nadia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525242/ https://www.ncbi.nlm.nih.gov/pubmed/21712188 http://dx.doi.org/10.1186/1479-7364-5-4-241 |
Ejemplares similares
-
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1
por: Hamby, Stephen E, et al.
Publicado: (2013) -
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
por: Alkindy, Adila, et al.
Publicado: (2012) -
Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene
por: Millar, David S, et al.
Publicado: (2010) -
Nonstop Sales Boom
por: Francis, Colleen
Publicado: (2014) -
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene
por: Millar, David S, et al.
Publicado: (2010)