Annalisa Schirinzi

Summary

Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
Country: Italy

Publications

  1. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007

Detail Information

Publications1

  1. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007
    ..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...