Article
NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
Human mutation - 1 Nov 2006
Pros Eva, Larriba Sara, López Eva, Ravella Anna, Gili M Lluïsa, Kruyer Helena, Valls Joan, Serra Eduard, Lázaro Conxi
Abstract excerpt
A significant number of neurofibromatosis type 1 (NF1) mutations result in exon skipping. The majority of these mutations do not occur in the canonical splice sites and can produce different aberrant transcripts whose proportions have not been well studied. It has been hypothesized that differences in the mutation-determined NF1-transcriptional profile could partially explain disease variability among patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.