- Functional analysis of splicing mutations in exon 7 of NF1 geneIrene 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...