Loading...

hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes

We have recently reported a disease-causing substitution (+5G > C) at the donor site of NF-1 exon 3 that produces its skipping. We have now studied in detail the splicing mechanism involved in analyzing RNA–protein complexes at several 5′ splice sites. Characteristic protein patterns were observe...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Buratti, Emanuele, Baralle, Marco, De Conti, Laura, Baralle, Diana, Romano, Maurizio, Ayala, Youhna M., Baralle, Francisco E.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2004
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC514374/
https://ncbi.nlm.nih.gov/pubmed/15299088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkh752
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!