Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor …
DI Rodenhiser, JD Andrews, DN Mancini… - Mutation Research …, 1997 - Elsevier
Neurofibromatosis type 1 (NF1) is among the most common human genetic disorders,
having a constellation of cutaneous and skeletal manifestations, intellectual impairment, and
an increased risk for a variety of malignancies. The NF1 gene has a high spontaneous
mutation rate and is also associated with a variety of sporadic cancers in the general
population. While a number of laboratories are involved in a coordinated effort to identify
NF1 mutations, an important gap in our knowledge is an understanding of the mechanisms …
having a constellation of cutaneous and skeletal manifestations, intellectual impairment, and
an increased risk for a variety of malignancies. The NF1 gene has a high spontaneous
mutation rate and is also associated with a variety of sporadic cancers in the general
population. While a number of laboratories are involved in a coordinated effort to identify
NF1 mutations, an important gap in our knowledge is an understanding of the mechanisms …