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Results: 2
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
Authors: Messiaen, LM Callens, T Mortier, G Beysen, D Vandenbroucke, I Van Roy, N Speleman, F De Paepe, A
Citation: Lm. Messiaen et al., Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects, HUM MUTAT, 15(6), 2000, pp. 541-555
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing
Authors: Messiaen, LM Callens, T Roux, KJ Mortier, GR De Paepe, A Abramowicz, M Pericak-Vance, MA Vance, JM Wallace, MR
Citation: Lm. Messiaen et al., Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing, GENET MED, 1(6), 1999, pp. 248-253
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