Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

  title={Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.},
  author={Smita M. Purandare and W. George Lanyon and J. Michael Connor},
  journal={Human molecular genetics},
  volume={3 7},
Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, caused by mutations in the NF-1 gene. Mutation analysis in the NF-1 gene is complicated by the large size of the gene, the high mutation rate, and the presence of pseudogenes. By means of the polymerase chain reaction, we have amplified 70% of the NF-1 coding sequence using reverse transcribed mRNA and genomic DNA from 25 unrelated Scottish Caucasian patients. We have used chemical mismatch cleavage analysis and direct… CONTINUE READING


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