Functional analysis of splicing mutations in exon 7 of NF1 gene

BACKGROUND: Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to missplicing. METHODS: In this study we investigated the expression of exon 7 trans...

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Détails bibliographiques
Auteurs principaux: Bottillo, Irene, De Luca, Alessandro, Schirinzi, Annalisa, Guida, Valentina, Torrente, Isabella, Calvieri, Stefano, Gervasini, Cristina, Larizza, Lidia, Pizzuti, Antonio, Dallapiccola, Bruno
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2007
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1802069/
https://ncbi.nlm.nih.gov/pubmed/17295913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-4
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