Llwytho...

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene

BACKGROUND: Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 1,800 CFTR mutations have been reported, and about 12% of mutations are believed to impair pre-mRNA splicing. Given that several synthetic, non-splice-junction synonymous s...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Scott, Alexandra, Petrykowska, Hanna M., Hefferon, Timothy, Gotea, Valer, Elnitski, Laura
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3440543/
https://ncbi.nlm.nih.gov/pubmed/22591852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcf.2012.04.009
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!