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A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

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Abstract

We describe here a new sequence variant occurring in the coding region of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphism can be directly investigated by simple restriction enzyme digestion of RT-PCR (reverse transcription-polymerase chain reaction) products, making it a powerful tool for examining allele-specific mRNA expression levels.

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Authors and Affiliations

  1. Laboratoire de Cytogénétique et Génétique Oncologiques CNRS URA 1158, PR2, Institut Gustave Roussy, 39 rue Camille Desmoulins, F-94805, Villejuif Cedex, France

    Vinciane Régnier, Gisèle Danglot, Van-Cong Nguyen & Alain Bernheim

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  1. Vinciane Régnier
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  2. Gisèle Danglot
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  3. Van-Cong Nguyen
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  4. Alain Bernheim
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Régnier, V., Danglot, G., Nguyen, VC. et al. A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level. Hum Genet 96, 131–132 (1995). https://doi.org/10.1007/BF00214202

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  • DOI: https://doi.org/10.1007/BF00214202

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