Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

@article{Messiaen2000ExhaustiveMA,
  title={Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.},
  author={Ludwine M Messiaen and Tom Callens and Geert Mortier and Diane Beysen and Ina I. Vandenbroucke and Nadine Van Roy and Frank Speleman and Anne De Paepe},
  journal={Human mutation},
  year={2000},
  volume={15 6},
  pages={541-55}
}
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene. Mutation detection is complex due to the large size of the NF1 gene, the presence of pseudogenes and the great variety of possible lesions. Although there is no evidence for locus heterogeneity in NF1, mutation detection rates rarely exceed 50%. We studied 67 unrelated NF1 patients fulfilling the NIH diagnostic criteria, 29 familial and 38 sporadic cases, using a… CONTINUE READING
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