Functional analysis of splicing mutations in exon 7 of <it>NF1 </it>gene

• Ngā kaituhi matua: Calvieri Stefano (Author), Torrente Isabella (Author), Guida Valentina (Author), Schirinzi Annalisa (Author), De Luca Alessandro (Author), Bottillo Irene (Author), Gervasini Cristina (Author), Larizza Lidia (Author), Pizzuti Antonio (Author), Dallapiccola Bruno (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2007-02-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. <it>NF1 </it>exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to misspl...