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...

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Main Authors: Buratti, Emanuele, Baralle, Marco, De Conti, Laura, Baralle, Diana, Romano, Maurizio, Ayala, Youhna M., Baralle, Francisco E.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2004
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Articles
Acceso en liña: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
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