Associated Papers
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R et al.
American Journal of Human Genetics, 2000
Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs.
Rodenhiser D et al.
Oncogene, 1996
Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene.
Böddrich A et al.
Biochemical and Biophysical Research Communications, 1995
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